Submissions for variant NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)

gnomAD frequency: 0.00009  dbSNP: rs141837529

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036559	SCV000060214	likely benign	not specified	2014-11-13	criteria provided, single submitter	clinical testing	proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx	RCV000766663	SCV000520039	uncertain significance	not provided	2020-10-20	criteria provided, single submitter	clinical testing	Reported in association with HCM (Walsh et al., 2017); Identified in conjunction with additional variants in individuals referred for cardiomyopathy genetic testing at GeneDx; segregation data is limited or absent at this time; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar (ClinVar Variant ID# 43615; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27532257, 31983221, 33025817)
CeGaT Center for Human Genetics Tuebingen	RCV000766663	SCV001150583	likely benign	not provided	2018-05-01	criteria provided, single submitter	clinical testing
Invitae	RCV001056318	SCV001220756	likely benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2023-11-17	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001189707	SCV001357057	likely benign	Cardiomyopathy	2019-03-27	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001189707	SCV002042840	likely benign	Cardiomyopathy	2020-02-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399371	SCV002712974	likely benign	Cardiovascular phenotype	2020-02-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.