ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95083G>A (p.Gly31695Arg)

gnomAD frequency: 0.00011  dbSNP: rs376403373
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Total submissions: 6
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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 RCV000040818 SCV000064509 uncertain significance not specified 2012-04-30 criteria provided, single submitter clinical testing The Gly29127Arg variant (TTN) has not previously been reported in the literature nor previously identified by our laboratory. This variant has been identified i n 0.06% (2/3250) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/); however, thi s frequency is too low to confidently rule out a disease causing role. Computati onal analyses (biochemical amino acid properties, conservation, and SIFT) sugges t that this variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. In summary, additional information is n eeded to fully assess the clinical significance of the Gly29127Arg variant.
GeneDx RCV000040818 SCV000237801 uncertain significance not specified 2014-12-31 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM panel(s).
Eurofins Ntd Llc (ga) RCV000726197 SCV000342826 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040818 SCV000616184 uncertain significance not specified 2016-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765538 SCV000896853 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726197 SCV003824772 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing

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