ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33971A>G (p.Lys11324Arg)

dbSNP: rs727504880
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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 RCV000156251 SCV000205967 uncertain significance not specified 2013-12-06 criteria provided, single submitter clinical testing The Lys10080Arg variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Lysine (Lys) at position 10080 is not co nserved in evolutionarily distant species and 2 species (turkey and coelacanth) carry an arginine (Arg) at this position, raising the possibility that this chan ge may be tolerated. Additional computational analyses (biochemical amino acid p roperties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Lys100 80Arg variant may not impact the protein, though this information is not predict ive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of the Lys10080Arg variant.

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