ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg) (rs141605607)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000335163 SCV000340392 likely benign not specified 2017-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000335163 SCV000714587 likely benign not specified 2017-09-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000365797 SCV000436584 uncertain significance Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000546868 SCV000657058 uncertain significance Bethlem myopathy 1 2018-06-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1010 of the COL6A1 protein (p.Gln1010Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs141605607, ExAC 0.06%) but has not been reported in the literature in individuals with a COL6A1-related disease. ClinVar contains an entry for this variant (Variation ID: 286824). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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