ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1676G>A (p.Gly559Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288378 SCV002580649 uncertain significance Stickler syndrome type 2 2022-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529122 SCV004109014 likely pathogenic COL11A1-related disorder 2023-04-17 criteria provided, single submitter clinical testing The COL11A1 c.1676G>A variant is predicted to result in the amino acid substitution p.Gly559Asp. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant affects a Gly residue of the conserved triple helical domain (amino acid residues 529-1542, www.uniprot.org/uniprotkb/P12107/), where substitutions of glycine are usually pathogenic (Richards et al. 2010. PubMed ID: 20513134; https://www.ncbi.nlm.nih.gov/books/NBK1302/). Other nearby Gly substitutions (p.Gly535Cys and p.Gly565Val) have been reported in individuals with autosomal dominant Stickler syndrome (Acke et a. 2014. PubMed ID: 25240749; Richards et al. 2010. PubMed ID: 20513134). Given the evidence, we interpret c.1676G>A (p.Gly559Asp) as likely pathogenic.

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