ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) (rs368502650)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154943 SCV000204625 uncertain significance not specified 2015-05-20 criteria provided, single submitter clinical testing The p.His13075Arg variant in TTN has been identified by our laboratory in 1 Cauc asian adult with possible ARVC and a family history of cardiomyopathy and sudden death, who carried a likely pathogenic variant in another gene. This variant ha s also been identified in 10/66616 European chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs368502650). Computati onal prediction tools and conservation analysis suggest that this variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.His13075Arg varian t is uncertain.
GeneDx RCV000154943 SCV000237205 likely benign not specified 2018-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000205370 SCV000261774 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000154943 SCV000605495 uncertain significance not specified 2017-03-02 criteria provided, single submitter clinical testing

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