Submissions for variant NM_003673.4(TCAP):c.353C>T (p.Ala118Val)

gnomAD frequency: 0.00092  dbSNP: rs143233087

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000713783	SCV000236410	likely benign	not provided	2021-02-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24037902, 25351510, 26220970)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079164	SCV000287958	likely benign	Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy	2025-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000713783	SCV000336815	uncertain significance	not provided	2017-12-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617934	SCV000739918	likely benign	Cardiovascular phenotype	2018-05-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics	RCV000713783	SCV000844414	uncertain significance	not provided	2017-10-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769481	SCV000900876	uncertain significance	Cardiomyopathy	2015-11-03	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV001256811	SCV001433266	uncertain significance	Hypertrophic cardiomyopathy 1	2019-12-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927715	SCV004746625	likely benign	TCAP-related disorder	2022-10-24	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).