ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)

gnomAD frequency: 0.00001  dbSNP: rs2078657536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001988635 SCV002272797 pathogenic Bethlem myopathy 1A 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 700 of the COL6A2 protein (p.Gly700Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of autosomal dominant COL6A2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1488541). 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 COL6A2 protein function. This variant disrupts the p.Gly700 amino acid residue in COL6A2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15689448, 32528171; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV001988635 SCV004171644 uncertain significance Bethlem myopathy 1A 2023-11-24 no assertion criteria provided clinical testing

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