ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu)

gnomAD frequency: 0.00001  dbSNP: rs1296360526
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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 RCV000815355 SCV000955804 uncertain significance Bethlem myopathy 1A 2023-08-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 658517). This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2841 of the COL6A3 protein (p.Gly2841Glu). 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 COL6A3 protein function.
GeneDx RCV001759585 SCV001987860 uncertain significance not provided 2019-06-03 criteria provided, single submitter clinical testing 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 a deleterious effect

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