ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.560C>A (p.Ala187Asp) (rs397516473)

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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 RCV000036601 SCV000060256 uncertain significance not specified 2012-06-01 criteria provided, single submitter clinical testing The Ala177Asp variant in TNNT2 has not been reported in the literature and has n ot been identified in >3600 individuals (>2200 Caucasian) tested by our laborato ry. Computational analyses (biochemical amino acid properties, conservation, Ali gnGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an imp act to the protein. Additional information is needed to fully assess the clinica l significance of the Ala177Asp variant.

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