Submissions for variant NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)

gnomAD frequency: 0.00013  dbSNP: rs397517783

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040896	SCV000064587	uncertain significance	not specified	2015-09-08	criteria provided, single submitter	clinical testing	The p.Gly30905Ser variant in TTN has been identified by our laboratory in 1 mixe d race individual with HCM. This variant has been identified in 4/66100 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs397517783). Computational prediction tools and conservation anal ysis do not provide strong support for or against an impact to the protein. In s ummary, the clinical significance of the p.Gly30905Ser variant is uncertain.
Eurofins Ntd Llc (ga)	RCV000725603	SCV000338093	uncertain significance	not provided	2015-12-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381321	SCV002674401	likely benign	Cardiovascular phenotype	2020-05-27	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.
Athena Diagnostics Inc	RCV000725603	SCV002770633	uncertain significance	not provided	2022-08-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002477125	SCV002776414	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-10-20	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725603	SCV003826730	uncertain significance	not provided	2022-04-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040896	SCV003928666	uncertain significance	not specified	2023-04-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725603	SCV004150196	uncertain significance	not provided	2023-02-01	criteria provided, single submitter	clinical testing	TTN: PM2