ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.8201G>A (p.Arg2734Gln) (rs115116398)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539637 SCV000657424 uncertain significance Bethlem myopathy 1 2017-11-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 2734 of the COL6A3 protein (p.Arg2734Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs115116398, ExAC 0.08%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with a COL6A3-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on COL6A3 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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