ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.1906G>A (p.Gly636Ser)

gnomAD frequency: 0.00006  dbSNP: rs34990115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727204 SCV001962399 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001727204 SCV001991856 uncertain significance not provided 2024-12-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001727204 SCV002286833 uncertain significance not provided 2025-01-20 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 636 of the COL9A3 protein (p.Gly636Ser). This variant is present in population databases (rs34990115, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with COL9A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1298874). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt COL9A3 protein function with a positive predictive value of 95%. 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.
Fulgent Genetics, Fulgent Genetics RCV002506750 SCV002815281 uncertain significance Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder 2021-10-18 criteria provided, single submitter clinical testing

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