ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8209A>C (p.Lys2737Gln)

gnomAD frequency: 0.00001  dbSNP: rs111764507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756539 SCV001985421 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in definitive association with human disease to our knowledge; This variant is associated with the following publications: (PMID: 23040494)
Labcorp Genetics (formerly Invitae), Labcorp RCV003517343 SCV004272304 uncertain significance Bethlem myopathy 1A 2024-07-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2737 of the COL6A3 protein (p.Lys2737Gln). This variant is present in population databases (no rsID available, 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: 1303040). 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 with a negative predictive value of 80%. 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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