ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24922C>T (p.Pro8308Ser)

gnomAD frequency: 0.00018  dbSNP: rs373770383
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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 RCV000604384 SCV000710963 uncertain significance not specified 2016-04-29 criteria provided, single submitter clinical testing The p.Pro7064Ser variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/9800 African chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs37 3770383). Computational prediction tools and conservation analysis do not provid e strong support for or against an impact to the protein. In summary, the clinic al significance of the p.Pro7064Ser variant is uncertain.

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