ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24823G>A (p.Ala8275Thr)

dbSNP: rs771947778
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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 RCV000616911 SCV000731400 uncertain significance not specified 2017-01-30 criteria provided, single submitter clinical testing The p.Ala7031Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/15322 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs771947778). Computational prediction tools and conservation analysis suggest that the p.Ala7031Thr variant may not impact the protein, though this informati on is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ala7031Thr variant is uncertain.

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