ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.432G>T (p.Leu144=)

dbSNP: rs776615304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441523 SCV000514921 likely benign not specified 2016-01-04 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 RCV001184558 SCV001350567 likely benign Cardiomyopathy 2020-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001445635 SCV001648669 likely benign Hypertrophic cardiomyopathy 2024-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022300 SCV005034645 likely benign Cardiovascular phenotype 2023-10-20 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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