ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1049A>G (p.Tyr350Cys)

dbSNP: rs563369722
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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 RCV000221499 SCV000272579 uncertain significance not specified 2015-06-25 criteria provided, single submitter clinical testing The p.Tyr350Cys variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/16512 South Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs563369722). Computational prediction tools and conservation analysis do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Tyr350Cys variant is uncertain.

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