ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs200598509
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Total submissions: 6
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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, Mass General Brigham 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 likely benign not provided 2020-02-06 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar (ClinVar Variant ID# 46723; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 23861362)
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
CeGaT Center for Human Genetics Tuebingen RCV000172387 SCV004155261 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing TTN: PM2:Supporting, BP4

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