ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.7687G>C (p.Gly2563Arg)

gnomAD frequency: 0.00003  dbSNP: rs780964113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000336512 SCV000336416 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001340582 SCV001534400 uncertain significance Bethlem myopathy 1A 2024-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2563 of the COL6A3 protein (p.Gly2563Arg). This variant is present in population databases (rs780964113, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 283984). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.

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