ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3398G>A (p.Arg1133His)

gnomAD frequency: 0.00001  dbSNP: rs776292672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002011499 SCV002304366 uncertain significance not provided 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1133 of the COL2A1 protein (p.Arg1133His). This variant is present in population databases (rs776292672, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with COL2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1510081). 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 COL2A1 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.
GeneDx RCV002011499 SCV004025614 uncertain significance not provided 2024-02-23 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; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease (HGMD)
CeGaT Center for Human Genetics Tuebingen RCV002011499 SCV004704168 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing COL2A1: PM1, PM5:Supporting, PP3, BP5, BS2

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