ClinVar Miner

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

gnomAD frequency: 0.00013  dbSNP: rs146636599
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
Eurofins Ntd Llc (ga) 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 This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000724308 SCV003825565 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing

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