ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2806G>A (p.Ala936Thr)

gnomAD frequency: 0.00003  dbSNP: rs376173871
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000402852 SCV000335893 uncertain significance not provided 2015-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001226230 SCV001398535 uncertain significance Bethlem myopathy 1A 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 936 of the COL6A2 protein (p.Ala936Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL6A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 283658). 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) indicates that this missense variant is not expected to disrupt COL6A2 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.
GeneDx RCV000402852 SCV002571594 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing Reported in an individual with leukemia, but additional clinical or segregation information was not provided and this individual was also reported to have multiple variants in other genes (Kiel et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30564623, 26415585)

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