ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102028A>C (p.Ser34010Arg)

dbSNP: rs727503534
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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, Mass General Brigham Personalized Medicine RCV000152161 SCV000200879 uncertain significance not specified 2014-02-13 criteria provided, single submitter clinical testing The Ser31442Arg variant in TTN has not been previously reported in individuals w ith cardiomyopathy. Data from large population studies is insufficient to assess the frequency of this variant. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of th e Ser31442Arg variant.

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