ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42056G>A (p.Arg14019His)

gnomAD frequency: 0.00001  dbSNP: rs374683153
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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 RCV000155835 SCV000205546 uncertain significance not specified 2014-03-19 criteria provided, single submitter clinical testing The Arg11451His variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/8184 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). C omputational prediction tools and conservation analysis suggest that this varian t may impact the protein, though this information is not predictive enough to de termine pathogenicity. Additional information is needed to fully assess the clin ical significance of this variant.
Invitae RCV000463510 SCV000555564 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001697117 SCV000719322 likely benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001697117 SCV003821766 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing

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