DHRS7C

Chr 17

dehydrogenase/reductase 7C

Also known as: SDR32C2

NCBI Gene: 201140 ENSG00000184544 UniProt: A6NNS2

This NADH-dependent oxidoreductase catalyzes the oxidation of all-trans-retinol to all-trans-retinal and regulates calcium homeostasis in cardiac and skeletal muscle by controlling calcium release from the sarcoplasmic reticulum. The gene is not highly constrained against loss-of-function variants, but no definitive human disease associations have been established in the provided data. Additional clinical and genetic studies would be needed to determine specific disease phenotypes and inheritance patterns associated with DHRS7C mutations.

ResearchSummary from RefSeq, UniProt

Predicted to enable all-trans-retinol dehydrogenase (NAD+) activity. Predicted to be involved in D-glucose import; intracellular calcium ion homeostasis; and regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum. Predicted to be located in longitudinal sarcoplasmic reticulum and sarcoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

DNmechanismLOEUF 1.50

Clinical Summary— DHRS7C

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

47 VUS of 50 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.50LOEUF

pLI 0.000

Z-score 0.23

OE 0.93 (0.59–1.50)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.35Z-score

OE missense 0.93 (0.81–1.05)

163 obs / 176.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.93 (0.59–1.50)

0≤0.351.4

Missense OE?0.93 (0.81–1.05)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 12 / 12.9Missense obs/exp: 163 / 176.1Syn Z: -0.06

This gene — mechanism propensity

0.74top 25%

GOF

0.6346th %ile

LOF

0.3162th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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

50 submitted variants in ClinVar

ClinVar

Classification Summary

VUS47

Benign2

VUS

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	47	0	47
Likely Benign	0	0	0
Benign	0	2	2
Total	47	2	49

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

View in ClinVar →

10 pathogenic / likely-pathogenic (of 15) ClinVar copy-number / structural variants overlap DHRS7C — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →