ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp)

gnomAD frequency: 0.00031  dbSNP: rs375944265
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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 RCV000214437 SCV000272683 uncertain significance not specified 2016-03-18 criteria provided, single submitter clinical testing The p.Arg15075Trp variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/9798 African chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3 75944265).Computational prediction tools and conservation analysis suggest that the p.Arg15075Trp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signific ance of the p.Arg15075Trp variant is uncertain.
GeneDx RCV001697291 SCV000726906 likely benign not provided 2019-02-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Ambry Genetics RCV002429077 SCV002743071 likely benign Cardiovascular phenotype 2020-03-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV001697291 SCV003820271 uncertain significance not provided 2020-11-07 criteria provided, single submitter clinical testing

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