SCNM1

Chr 1

sodium channel modifier 1

Also known as: OFD19

NCBI Gene: 79005ENSG00000163156UniProt: Q9BWG6

SCNM1 is a zinc finger protein and putative splicing factor. In mice, Scnm1 modifies phenotypic expression of Scn8a (MIM 600702) mutations (Buchner et al., 2003 [PubMed 12920299]).[supplied by OMIM, Oct 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOrofaciodigital syndrome 19
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.09
LOEUF
—
Mechanism
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?
1.09LOEUF
pLI 0.000
Z-score 1.28
OE 0.66 (0.41–1.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.13Z-score
OE missense 0.97 (0.83–1.12)
124 obs / 128.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.41–1.09)
0≤0.351.4
Missense OE?0.97 (0.83–1.12)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 11 / 16.6Missense obs/exp: 124 / 128.3Syn Z: 0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SCNM1 · 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 →

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