ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln) (rs147254212)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000219663 SCV000237992 likely benign not specified 2017-04-18 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219663 SCV000272667 uncertain significance not specified 2015-09-24 criteria provided, single submitter clinical testing The p.Arg1421Gln variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/66104 Finnish chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1 47254212). Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Arg1421Gln variant is uncertain.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170658 SCV001333252 uncertain significance Cardiomyopathy 2018-02-26 criteria provided, single submitter clinical testing

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