ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92561T>C (p.Ile30854Thr)

gnomAD frequency: 0.00004  dbSNP: rs368427408
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Total submissions: 4
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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 RCV000040795 SCV000064486 uncertain significance not specified 2013-01-02 criteria provided, single submitter clinical testing The Ile28286Thr variant in TTN has not been reported in the literature but has b een detected in one Caucasian individual tested by our laboratory. This varian t has been identified in 1/8296 European American chromosomes from a broad popul ation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Isoleucine (Ile) at position 28286 is conserved in evolution, though 1 mammalia n species (hedgehog) carries the variant amino acid (Thr) at this position, rais ing the possibility that this change may be tolerated. Computational analyses (b iochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) suggest that t he Ile28286Thr variant may not impact the protein, though this information is no t predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of the Ile28286Thr variant.
Eurofins Ntd Llc (ga) RCV000724840 SCV000331994 uncertain significance not provided 2015-07-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765542 SCV000896857 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 RCV000724840 SCV003824261 uncertain significance not provided 2019-04-11 criteria provided, single submitter clinical testing

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