ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln) (rs375667028)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000832933 SCV000974690 likely benign not provided 2018-06-05 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 RCV000040718 SCV000064409 uncertain significance not specified 2013-02-20 criteria provided, single submitter clinical testing The Arg26022Gln variant in TTN has not been reported in the literature nor previ ously identified by our laboratory but has been identified in 1/8208 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide st rong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Arg26022Gln variant.

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