ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.568G>T (p.Asp190Tyr) (rs727503500)

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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 RCV000152073 SCV000200711 likely pathogenic Hypertrophic cardiomyopathy 2019-07-11 criteria provided, single submitter clinical testing The p.Asp190Tyr variant in TNNI3 has been identified by our laboratory in 1 adult with HCM and segregated with disease in 4 affected relatives. It was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. Another HCM-associated variant meeting our criteria for pathogenicity has been reported at this same position (p.Asp190Gly; Mogensen 2003) suggesting that variation at this amino acid may not be tolerated. In summary, although additional studies are required to fully establish its clinical significance, the p.Asp190Tyr variant meets criteria to be classified as likely pathogenic for autosomal dominant HCM. ACMG/AMP Criteria applied: PM2, PM5, PP1, PP3.

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