ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val)

dbSNP: rs1663311706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001549390 SCV001769531 uncertain significance not provided 2020-10-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
PreventionGenetics, part of Exact Sciences RCV004528511 SCV004105525 likely pathogenic COL11A1-related disorder 2023-08-04 criteria provided, single submitter clinical testing The COL11A1 c.2522G>T variant is predicted to result in the amino acid substitution p.Gly841Val. To our knowledge, this variant has not been reported in the literature or in a large population database (, indicating this variant is rare. This variant affects a Gly residue of the conserved Gly-Xaa-Yaa triple helical domain (amino acid residues 529-1542,, where substitutions of glycine are usually pathogenic (Richards et al. 2010. PubMed ID: 20513134; This variant is interpreted as likely pathogenic.

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