ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.2617C>G (p.Arg873Gly)

dbSNP: rs200829297
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240904 SCV001413887 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 873 of the COL9A1 protein (p.Arg873Gly). This variant is present in population databases (rs200829297, gnomAD 0.01%). 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: 357800). 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 not expected to disrupt COL9A1 protein function with a negative 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.
GeneDx RCV001240904 SCV002012571 uncertain significance not provided 2021-05-26 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; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 357800; Landrum et al., 2016)
Ambry Genetics RCV002524501 SCV003742634 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.2617C>G (p.R873G) alteration is located in exon 38 (coding exon 38) of the COL9A1 gene. This alteration results from a C to G substitution at nucleotide position 2617, causing the arginine (R) at amino acid position 873 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005033901 SCV005672791 uncertain significance Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4 2024-01-02 criteria provided, single submitter clinical testing

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