rs113449357

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	0.5	likely to be benign
(T;T)	0.5	likely to be benign

Reference

GRCh38 38.1/141

Chromosome

3

Position

14139231

Gene

TMEM43

is a	snp
is	mentioned by
dbSNP	rs113449357
dbSNP (classic)	rs113449357
ClinGen	rs113449357
ebi	rs113449357
HLI	rs113449357
Exac	rs113449357
Gnomad	rs113449357
Varsome	rs113449357
LitVar	rs113449357
Map	rs113449357
PheGenI	rs113449357
Biobank	rs113449357
1000 genomes	rs113449357
hgdp	rs113449357
ensembl	rs113449357
geneview	rs113449357
scholar	rs113449357
google	rs113449357
pharmgkb	rs113449357
gwascentral	rs113449357
openSNP	rs113449357
23andMe	rs113449357
SNPshot	rs113449357
SNPdbe	rs113449357
MSV3d	rs113449357
GWAS Ctlg	rs113449357

GMAF

0.006428

Max Magnitude

0.5

rs113449357, also known as c.934C>T, p.Arg312Trp and R312W, is a variant in the TMEM43 gene on chromosome 3.

There are conflicting interpretations in ClinVar of whether the minor allele of this variant is pathogenic for an unspecified form of cardiomyopathy. The first report, apparently based on a single patient, indicated it was likely to be pathogenic, but two subsequent reviews (involving more patients and controls) have concluded it is benign. It is a somewhat uncommon variant, present with a frequency of 0.01 - 0.03 depending on the population.

If you know of evidence regarding the potential pathogenicity of this variant, let us know.

ClinVar
Risk	Rs113449357(T;T)
Alt	Rs113449357(T;T)
Reference	Rs113449357(C;C)
Significance	Probable-non-pathogenic
Disease	Cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype
Variation	info
Gene	TMEM43
CLNDBN	Cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy, type 5 Cardiovascular phenotype Cardiomyopathy, ARVC
Reversed	0
HGVS	NC_000003.11:g.14180731C>T
CLNSRC	ClinVar GeneDx LabCorp
CLNACC	RCV000030555.1, RCV000039394.5, RCV000233894.2, RCV000243225.1, RCV000336793.1,