ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1999G>A (p.Gly667Ser)

gnomAD frequency: 0.00001  dbSNP: rs760878512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002049814 SCV002111209 uncertain significance not provided 2021-04-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C55"). This variant has not been reported in the literature in individuals with COL11A1-related conditions. This variant is present in population databases (rs760878512, ExAC 0.01%). This sequence change replaces glycine with serine at codon 667 of the COL11A1 protein (p.Gly667Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.
GeneDx RCV002049814 SCV005377656 uncertain significance not provided 2023-12-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25240749)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813191 SCV005438440 uncertain significance Stickler syndrome type 2 2024-12-18 criteria provided, single submitter clinical testing

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