ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser)

gnomAD frequency: 0.00006  dbSNP: rs199581593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521139 SCV000619675 uncertain significance not provided 2023-11-10 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 RCV000521139 SCV001391317 uncertain significance not provided 2022-09-06 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 875 of the COL9A1 protein (p.Gly875Ser). This variant is present in population databases (rs199581593, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with COL9A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 451031). 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 COL9A1 protein function. 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 RCV002490914 SCV002777018 uncertain significance Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4 2022-02-02 criteria provided, single submitter clinical testing

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