ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51841T>C (p.Trp17281Arg)

gnomAD frequency: 0.00004  dbSNP: rs368846015
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Total submissions: 3
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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 RCV000152335 SCV000201230 uncertain significance not specified 2013-12-26 criteria provided, single submitter clinical testing The Trp14713Arg variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 1/3806 African American chromosomes by the N HLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/, dbSNP rs368846 015). Computational analyses (biochemical amino acid properties, conservation, A lignGVGD, PolyPhen2, and SIFT) suggest that the Trp14713Arg variant may impact t he protein, though this information is not predictive enough to determine pathog enicity. Additional information is needed to fully assess the clinical significa nce of the Trp14713Arg variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000556277 SCV000643313 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453500 SCV002736072 uncertain significance Cardiovascular phenotype 2019-02-08 criteria provided, single submitter clinical testing The p.W8216R variant (also known as c.24646T>C), located in coding exon 100 of the TTN gene, results from a T to C substitution at nucleotide position 24646. The tryptophan at codon 8216 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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