ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg)

gnomAD frequency: 0.00013  dbSNP: rs727505316
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Total submissions: 5
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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 RCV000156857 SCV000206578 uncertain significance not specified 2015-11-13 criteria provided, single submitter clinical testing The p.Thr18277Arg variant in TTN has been identified by our laboratory in 1 Cauc asian individual with HCM. This variant has also been identified in 2/66680 Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org; dbSNP rs727505316). Computational prediction tools and conservation analysis suggest that the p.Thr18277Arg variant may impact the protein, though t his information is not predictive enough to determine pathogenicity. In summary , the clinical significance of the p.Thr18277Arg variant is uncertain.
GeneDx RCV000766984 SCV000237389 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798526 SCV002042584 uncertain significance Cardiomyopathy 2019-09-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000766984 SCV003826650 uncertain significance not provided 2023-12-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000156857 SCV004122033 uncertain significance not specified 2023-10-23 criteria provided, single submitter clinical testing Variant summary: TTN c.54830C>G (p.Thr18277Arg) results in a non-conservative amino acid change located in the A-band of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 248568 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.54830C>G in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Four submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified as likely benign (n=1) and VUS (n=3). Based on the evidence outlined above, the variant was classified as uncertain significance.

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