ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) (rs374727686)

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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 RCV000152260 SCV000201094 uncertain significance not specified 2014-11-28 criteria provided, single submitter clinical testing The p.Arg18587Cys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/3770 of African American chro mosomes by the NHLBI Exome Sequencing Project ( ; dbSNP rs374727686). Computational prediction tools and conservation analysis s uggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significa nce of the p.Arg18587Cys variant is uncertain.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724176 SCV000228291 uncertain significance not provided 2015-06-05 criteria provided, single submitter clinical testing
Invitae RCV000460153 SCV000542580 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000724176 SCV000981778 likely benign not provided 2018-03-15 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.

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