ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter) (rs755987732)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760438 SCV000890321 pathogenic not provided 2019-01-22 criteria provided, single submitter clinical testing The R1362X variant in the COL11A1 gene has been reported previously in the homozygous state in an individual with fibrochondrogenesis (Akawi et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1362X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R1362X as a pathogenic variant.

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