ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71332G>A (p.Ala23778Thr)

dbSNP: rs727503566
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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 RCV000152225 SCV000201013 uncertain significance not specified 2013-09-11 criteria provided, single submitter clinical testing The Ala21210Thr variant in TTN has not been previously reported in any other fam ilies with cardiomyopathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIF T) do not provide strong support for or against an impact to the protein. Additi onal information is needed to fully assess the clinical significance of the Ala2 1210Thr variant.

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