ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)

gnomAD frequency: 0.00001  dbSNP: rs1040168773
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574783 SCV001801658 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002495920 SCV002787105 uncertain significance Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 2021-08-12 criteria provided, single submitter clinical testing
Invitae RCV001574783 SCV003019077 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536209 SCV004725662 uncertain significance COL11A1-related disorder 2024-02-13 criteria provided, single submitter clinical testing The COL11A1 c.3068C>A variant is predicted to result in the amino acid substitution p.Ala1023Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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