ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2215G>A (p.Gly739Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003035941 SCV003348224 uncertain significance not provided 2023-03-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2127651). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 739 of the COL11A2 protein (p.Gly739Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL11A2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005034601 SCV005669016 likely pathogenic Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2024-06-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004750251 SCV005341875 uncertain significance COL11A2-related disorder 2024-04-11 no assertion criteria provided clinical testing The COL11A2 c.2215G>A variant is predicted to result in the amino acid substitution p.Gly739Ser. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. The p.Gly739 amino acid is located in the conserved Gly-Xaa-Yaa triple helical domain where substitutions of a glycine are usually pathogenic (Vuristo et al. 1995. PubMed ID: 7559422; Chen et al. 2005. PubMed ID: 16033917). However, no pathogenic missense variant in this exon has been reported in the Human Gene Mutation Database. This variant could be pathogenic. However, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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