MYL7

Chr 7

myosin light chain 7

Also known as: MYL2A, MYLC2A

NCBI Gene: 58498ENSG00000106631UniProt: Q01449

Predicted to enable calcium ion binding activity. Predicted to be involved in cardiac muscle tissue development and heart contraction. Located in A band. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
23
Pathogenic / LP
55
ClinVar variants
24
Pubs (1 yr)
0.1
Missense Z
1.62
LOEUF
Clinical Summary— MYL7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
23 Pathogenic / Likely Pathogenic· 31 VUS of 55 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.62LOEUF
pLI 0.000
Z-score 0.14
OE 0.95 (0.57–1.62)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.06Z-score
OE missense 0.98 (0.84–1.16)
104 obs / 105.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.95 (0.57–1.62)
0≤0.351.4
Missense OE0.98 (0.84–1.16)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 9 / 9.5Missense obs/exp: 104 / 105.7Syn Z: 0.33
DNGOF
DN
0.75top 25%
GOF
0.6931th %ile
LOF
0.3163th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

55 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic1
VUS31
Likely Benign1
22
Pathogenic
1
Likely Pathogenic
31
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
22
0
22
Likely Pathogenic
0
0
1
0
1
VUS
0
27
4
0
31
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total02728055

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

MYL7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Early calcium and cardiac contraction defects in a model of phospholamban R9C mutation in zebrafish.
Vicente M et al.·J Mol Cell Cardiol
2022Functional
Simultaneous imaging of calcium and contraction in the beating heart of zebrafish larvae
Salgado-Almario J et al.·Theranostics
2022Functional
ATF3 overexpression is associated with cardiac hypertrophy and electrical dysfunction accompanied by enhanced cardiac cell proliferation in zebrafish
Kim E et al.·Sci Rep
2025Functional
Optimized Aequorin Reconstitution Protocol to Visualize Calcium Ion Transients in the Heart of Transgenic Zebrafish Embryos In Vivo.
Vicente M et al.·Methods Mol Biol
2022Functional
Characterization of N-(1,3-dimethylbutyl)-N'-phenyl-p-phenylenediamine (6PPD)-induced cardiotoxicity in larval zebrafish (Danio rerio).
Fang C et al.·Sci Total Environ
2023Functional
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients