ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4943A>T (p.His1648Leu)

dbSNP: rs1487325262
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Total submissions: 1
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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 RCV000610034 SCV000713767 likely pathogenic Rare genetic deafness 2020-06-08 criteria provided, single submitter clinical testing The p.His1648Leu variant in COL11A2 variant has been reported by our laboratory in 2 individuals with hearing loss, including one individual in whom a likely pathogenic COL11A2 variant was confirmed in trans and both variants segregated in an affected sibling. None of the affected individuals harboring this variant were reported to have clinical features of Stickler or OSMED syndrome. The p.His1648Leu variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive hearing loss. ACMG/AMP Criteria applied: PM2, PM3, PP3, PP1.

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