ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln)

gnomAD frequency: 0.00002  dbSNP: rs397517520
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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 RCV000040060 SCV000063751 uncertain significance not specified 2012-05-31 criteria provided, single submitter clinical testing The Arg7678Gln variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, PolyPhen2, and SIFT) do not provide suport for or ag ainst an impact to the protein, though this information is not predictive enough to determine pathogenicity. Additional information is needed to fully assess th e clinical significance of the Arg7678Gln variant.
Genetics and Genomics Program, Sidra Medicine RCV001293131 SCV001434121 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
GeneDx RCV001550107 SCV001770388 likely benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001550107 SCV004225895 uncertain significance not provided 2022-03-21 criteria provided, single submitter clinical testing BP4, PM2

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