ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11842C>T (p.Arg3948Cys) (rs397517827)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041082 SCV000064773 uncertain significance not specified 2012-05-17 criteria provided, single submitter clinical testing The Arg3710Cys variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. It was also absent from a very large and broa d population sequenced by the NHLBI Exome Sequencing Project ( This low frequency is consistent with a disease causing role bu t insufficient to establish this with confidence. Evolutionary conservation and computational tools are limited or unavailable for this variant. Additional info rmation is needed to fully assess the clinical significance of the Arg3710Cys va riant.
GeneDx RCV000041082 SCV000238169 likely benign not specified 2017-08-03 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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