ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.774C>T (p.Phe258=)

gnomAD frequency: 0.00009  dbSNP: rs397516481
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036616 SCV000060271 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
GeneDx RCV001703874 SCV000522982 likely benign not provided 2019-10-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30297972)
Invitae RCV000554300 SCV000646911 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2023-12-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184756 SCV001350816 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703874 SCV002496978 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing TNNT2: BP4, BP7
Ambry Genetics RCV002381299 SCV002670317 likely benign Cardiovascular phenotype 2023-06-01 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.
Genome-Nilou Lab RCV003450715 SCV004181227 likely benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450716 SCV004181229 likely benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450714 SCV004181230 likely benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541102 SCV004776877 likely benign TNNT2-related disorder 2020-09-23 criteria provided, single submitter 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).
All of Us Research Program, National Institutes of Health RCV001184756 SCV004815261 likely benign Cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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