ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.336C>T (p.Tyr112=)

gnomAD frequency: 0.00001  dbSNP: rs559450042
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Total submissions: 6
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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 RCV000217450 SCV000270928 likely benign not specified 2015-02-16 criteria provided, single submitter clinical testing p.Tyr112Tyr in exon 6 of TNNI3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 6/16424 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org).
GeneDx RCV000217450 SCV000514920 benign not specified 2015-12-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001189151 SCV001356377 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001444772 SCV001647783 likely benign Hypertrophic cardiomyopathy 2024-01-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001444772 SCV004819071 likely benign Hypertrophic cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678647 SCV005174031 likely benign Cardiovascular phenotype 2024-05-19 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.

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