ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.391G>A (p.Val131Ile)

gnomAD frequency: 0.00002  dbSNP: rs537067344
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693026 SCV000820879 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458239 SCV002617495 likely benign Cardiovascular phenotype 2019-04-02 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.
GeneDx RCV003442027 SCV004170736 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing Reported in 1/427 control alleles (PMID: 24510615); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24510615)
Color Diagnostics, LLC DBA Color Health RCV003532237 SCV004359941 likely benign Cardiomyopathy 2020-03-30 criteria provided, single submitter clinical testing

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