ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) (rs148269839)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725354 SCV000336264 uncertain significance not provided 2015-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000040162 SCV000237684 likely benign not specified 2017-05-16 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 RCV000475442 SCV000542502 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-04-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040162 SCV000063853 uncertain significance not specified 2015-08-12 criteria provided, single submitter clinical testing The p.Met1001Arg variant in TTN has been identified by our laboratory in 1 Cauca sian teenager with DCM and NSVT, who carried a disease-causing variant in anothe r gene. This variant has been identified in 13/66704 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148 269839). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. Computational splicing tools suggest this variant may lead to the creation of a novel splice site; howe ver, this information is not predictive enough to determine pathogenicity. In su mmary, the clinical significance of the p.Met1001Arg variant is uncertain.

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