ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) (rs374203813)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726856 SCV000703646 uncertain significance not provided 2016-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000040487 SCV000727386 likely benign not specified 2018-02-01 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 RCV000040487 SCV000064178 uncertain significance not specified 2012-05-23 criteria provided, single submitter clinical testing The Ala1914Val variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. It was also not detected in 2 large cohorts ( European and African American) sequenced by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS/). This low frequency is consistent wiht a pat hogenic role but is insufficient to rule out a benign role. Computational analys es (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and S IFT) do not provide strong support for or against an impact to the protein. Addi tional information is needed to fully assess the clinical significance of the Al a1914Val variant.

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