ClinVar Miner

Submissions for variant NC_000001.11:g.201359651G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825636 SCV000967000 likely pathogenic Hypertrophic cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing The p.Arg265X variant in TNNT2 has not been previously reported in individuals w ith cardiomyopathy and was absent from large population studies. This nonsense v ariant leads to a premature termination codon at position 265. This alteration o ccurs within the terminal 50 bases of the second to last exon and is, therefore, likely to escape nonsense mediated decay (NMD) and result in a truncated protei n. Although truncating variants in TNNT2 are very rare, a well supported pathoge nic truncating variant downstream of the p.Arg265X variant is known to cause HCM (p.Trp287X, ClinVar ID:177636). In summary,although additional studies are requ ired to fully establish its clinical significance, the p.Arg265X variant is lik ely pathogenic. ACMG/AMP Criteria applied: PVS1_Moderate, PM2, PM4.

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