ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala) (rs199910114)

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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 RCV000040365 SCV000064056 uncertain significance not specified 2012-02-23 criteria provided, single submitter clinical testing The Gly1570Ala variant (TTN) has been identified in 3/3738 African American chro mosomes from a broad population by the NHBLI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS). Glycine (Gly) at position 1570 is highly conserved in mammals and across evolutionarily distant species, though computational analyses (biochemical amino acid properties, AlignGVGD, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is neede d to fully assess the clinical significance of the Gly1570Ala variant.
GeneDx RCV000040365 SCV000715769 likely benign not specified 2017-03-24 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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