ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu) (rs200598509)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172387 SCV000051281 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039993 SCV000063684 uncertain significance not specified 2012-07-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ser6792Leu vari ant in TTN has been identified in 2/8252 European American chromosomes from a br oad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/). Computational analyses (biochemical amino acid properties, conservatio n, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ser6792Leu variant may not i mpact the protein, though this information is not predictive enough to rule out pathogenicity. Although this data supports that the Ser6792Leu variant may be be nign, additional studies are needed to fully assess its clinical significance.
GeneDx RCV000172387 SCV000238344 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TTN gene. The S7719L variant has reported as a variant of uncertain significance in one individual from a cohort of individuals not selected for cardiomyopathy, arrhythmia, or family history of sudden cardiac death, who underwent exome sequencing (Ng et al., 2013). This variant is observed in 8/66,714 (0.01%) alleles from individuals of European ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). Furthermore, this substitution occurs at a position that is not conserved across species and where leucine is the wild type in several species. Nevertheless, the S7719L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties and in silico analysis predicts this variant is probably damaging to the protein structure/function.
Genetic Services Laboratory, University of Chicago RCV000039993 SCV000249245 uncertain significance not specified 2015-01-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000172387 SCV000844650 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing

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