ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3391G>A (p.Gly1131Ser)

dbSNP: rs2077786156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001309545 SCV001499047 uncertain significance Bethlem myopathy 1A 2022-03-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1011707). 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 COL6A3 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. This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1131 of the COL6A3 protein (p.Gly1131Ser). This variant is not present in population databases (gnomAD no frequency).

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