ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) (rs72646859)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172649 SCV000051484 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040478 SCV000064169 uncertain significance not specified 2012-06-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg18824Cys var iant in TTN has been identified in 0.15% of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washingto n.edu/EVS/; dbSNP rs72646859). Computational analyses (biochemical amino acid pr operties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg1882 4Cys variant may impact the protein, though this information is not predictive e nough to determine pathogenicity. Although the population frequency argues again st a pathogenic role, it is too low to confidently rule out a role in disease. A dditional information is therefore needed to fully assess the clinical significa nce of the Arg18824Cys variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172649 SCV000228294 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000040478 SCV000237410 likely benign not specified 2018-02-28 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 RCV000172649 SCV000286778 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244887 SCV000320083 likely benign Cardiovascular phenotype 2017-12-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Genetic Services Laboratory, University of Chicago RCV000040478 SCV000597689 uncertain significance not specified 2016-12-05 criteria provided, single submitter clinical testing

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