ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.775G>A (p.Glu259Lys) (rs727504488)

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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 RCV000155622 SCV000205330 uncertain significance not specified 2013-09-24 criteria provided, single submitter clinical testing The Glu252Lys variant in TNNT2 has now been identified by our laboratory in 2 Ca ucasian individuals with DCM and segregated with disease in 1 affected relative. It has not been identified in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT ) suggest that the Glu252Lys variant may not impact the protein, though this inf ormation is not predictive enough to rule out pathogenicity. Additional informat ion is needed to fully assess the clinical significance of this variant.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000627133 SCV000747947 likely pathogenic Familial dilated cardiomyopathy 2017-04-28 criteria provided, single submitter clinical testing

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