ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter) (rs764450149)

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Total submissions: 1
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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.

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