ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln) (rs139552940)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193161 SCV000247075 likely pathogenic Myopathy 2015-01-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000387708 SCV000332621 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing
Invitae RCV001208362 SCV001379745 uncertain significance Bethlem myopathy 1 2019-07-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 830 of the COL6A2 protein (p.Arg830Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs139552940, ExAC 0.02%). This variant has been observed in individual(s) with Bethlem myopathy. In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant (PMID: 19949035, 29419890). This variant has also been observed in the heterozygous state in an individual affected with limb-girdle muscular dystrophy (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 210747). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg830 amino acid residue in COL6A2. Other variant(s) that disrupt this residue have been observed in individuals with COL6A2-related conditions (PMID: 19884007), which suggests that this may be a clinically significant amino acid residue. 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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