ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp)

gnomAD frequency: 0.00012  dbSNP: rs369126897
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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 RCV000222003 SCV000271603 uncertain significance not specified 2015-06-16 criteria provided, single submitter clinical testing The p.Arg1431Trp variant in COL11A2 has not been previously reported in individu als with hearing loss, but has been identified in 6/9192 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 369126897). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. Computational predict ion tools and conservation analysis suggest that this variant may impact the pro tein, though this information is not predictive enough to determine pathogenicit y. In summary, the clinical significance of the p.Arg1431Trp variant is uncertai n.
Eurofins Ntd Llc (ga) RCV000727342 SCV000707706 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727342 SCV002380922 likely benign not provided 2024-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000727342 SCV005079794 uncertain significance not provided 2024-04-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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