ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.673G>T (p.Val225Leu) (rs397516479)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036610 SCV000060265 uncertain significance not specified 2013-09-13 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000201894 SCV000256660 uncertain significance Familial hypertrophic cardiomyopathy 1 2015-06-04 criteria provided, single submitter research This TNNT2 Val225Leu variant is rare, with an allele frequency of 0.00003 ( In silico tools predict the variant to be benign (SIFT, Polyphen2, MutationTaster) and there are no other reports in the literature. We have identified this variant in a male patient with HCM (max LVH= 27mm) and no family history of disease. There is limited evidence to suggest a causative role for this variant, therefore we have classified it as a variant of "uncertain significance".

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