ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter)

dbSNP: rs764450149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578641 SCV000680610 likely pathogenic not provided 2017-06-22 criteria provided, single submitter clinical testing The R177X likely pathogenic variant in the COL11A2 gene has been previously described in an individual with non-syndromic Robin sequence (Melkoniemi et al., 2003). The father, who was also heterozygous for this variant, was found to have a high-arched palate and a small, upturned nose (Melkoniemi et al., 2003). The R177X variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the COL11A2 gene have been reported in Human Gene Mutation Database in association with COL11A2-related disorders (Stenson et al., 2014). Furthermore, R177X is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).In summary, R177X in the COL11A2 gene is interpreted as a likely pathogenic variant. Pathogenic variants in the COL11A2 gene are associated with both autosomal dominant and autosomal recessive conditions.
Invitae RCV000578641 SCV004293289 pathogenic not provided 2023-04-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 488752). This variant is also known as R310X. This variant has not been observed in the literature in individuals with autosomal recessive COL11A2-related conditions. This variant has been reported in individual(s) with Robin sequence (PMID: 12673280); however, the role of the variant in this condition is currently unclear. This variant is present in population databases (rs764450149, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg177*) in the COL11A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL11A2 are known to be pathogenic (PMID: 10677296, 21204229).

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