ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu) (rs146636599)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155009 SCV000204691 uncertain significance not specified 2013-04-03 criteria provided, single submitter clinical testing The Val2812Leu variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has been identified in 1/4406 Af rican American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS/; dbSNP rs146636599). Computational analyses (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724308 SCV000229842 uncertain significance not provided 2014-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000724308 SCV000238043 likely benign not provided 2020-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000241887 SCV000320466 likely benign Cardiovascular phenotype 2020-02-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification

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