ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2809G>A (p.Gly937Ser)

gnomAD frequency: 0.00001  dbSNP: rs993223370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658004 SCV000779775 uncertain significance not provided 2021-02-19 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 supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV000658004 SCV002173582 uncertain significance not provided 2022-11-28 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL11A2 protein function. ClinVar contains an entry for this variant (Variation ID: 546165). This variant has not been reported in the literature in individuals affected with COL11A2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 937 of the COL11A2 protein (p.Gly937Ser).

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