ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.2204G>A (p.Arg735Gln)

gnomAD frequency: 0.00002  dbSNP: rs769986009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769698 SCV002004596 uncertain significance not provided 2019-08-30 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, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001769698 SCV002161467 uncertain significance not provided 2023-05-15 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 not expected to disrupt COL9A1 protein function. ClinVar contains an entry for this variant (Variation ID: 1317691). This variant has not been reported in the literature in individuals affected with COL9A1-related conditions. This variant is present in population databases (rs769986009, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 735 of the COL9A1 protein (p.Arg735Gln).

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