ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5330G>T (p.Gly1777Val)

gnomAD frequency: 0.00001  dbSNP: rs1477823319
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225809 SCV001398101 uncertain significance Bethlem myopathy 1 2022-06-03 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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 expected to disrupt COL6A3 protein function. ClinVar contains an entry for this variant (Variation ID: 953507). 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 valine, which is neutral and non-polar, at codon 1777 of the COL6A3 protein (p.Gly1777Val).

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