ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72236A>G (p.Lys24079Arg)

dbSNP: rs775482499
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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 RCV000215410 SCV000272746 uncertain significance not specified 2015-06-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Lys21511Arg v ariant TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/16244 South Asian chromosomes by the Exome Aggregat ion Consortium (ExAC, http://exac.broadinstitute.org). The affected amino acid i s not conserved in evolution and multiple mammals (cat, dog, ferret, panda, paci fic walrus and Weddell seal) have an arginine (Arg) at this position, suggesting that this change may be tolerated. In summary, while the clinical significance of the p.Lys21511Arg variant is uncertain, these data suggest that it is more li kely to be benign.

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