ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61742T>G (p.Val20581Gly)

dbSNP: rs727504849
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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 RCV000156198 SCV000205914 uncertain significance not specified 2013-11-20 criteria provided, single submitter clinical testing The Val18013Gly variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do n ot provide strong support for or against an impact to the protein. Additional in formation is needed to fully assess the clinical significance of the Val18013Gly variant.

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