ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.228G>C (p.Lys76Asn) (rs727504869)

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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 RCV000156231 SCV000205947 uncertain significance not specified 2013-11-21 criteria provided, single submitter clinical testing The Lys66Asn variant in TNNT2 has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational analyses (bioche mical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do no t provide strong support for or against an impact to the protein. Additional inf ormation is needed to fully assess the clinical significance of the Lys66Asn var iant.

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