ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3116G>T (p.Gly1039Val)

dbSNP: rs1554216943
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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 RCV000602313 SCV000713769 likely pathogenic Rare genetic deafness 2020-06-08 criteria provided, single submitter clinical testing The p.Gly1039Val variant in COL11A2 has been identified by our laboratory in 1 individual with hearing loss who harbored a second COL11A2 missense variant in trans, and these variants segregated in an affected sibling. No syndromic features of Stickler syndrome or OSMED syndrome were reported for these individuals. It was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, and the variant affects the glycine (Gly) residue of the conserved Gly-X-Y repeat motif in the COL11A2 protein. 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_Supporting, PP1, PM1_Supporting.

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