ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer)

dbSNP: rs1343199316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658261 SCV000780032 likely pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000658261 SCV002995066 pathogenic not provided 2024-01-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn398*) in the COL11A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL11A1 are known to be pathogenic (PMID: 20513134, 21035103, 23922384, 25240749, 32427345, 32756486). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with COL11A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 546394). For these reasons, this variant has been classified as Pathogenic.

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