ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16577A>G (p.Asn5526Ser)

gnomAD frequency: 0.00001  dbSNP: rs767376352
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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 RCV000600311 SCV000712545 uncertain significance not specified 2016-10-25 criteria provided, single submitter clinical testing The p.Asn4282Ser variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/66454 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 767376352). Computational prediction tools and conservation analysis do not prov ide strong support for or against an impact to the protein. In summary, the clin ical significance of the p.Asn4282Ser variant is uncertain.

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