ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2591C>T (p.Thr864Met) (rs200488881)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000344482 SCV000436784 uncertain significance Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401616 SCV000436785 uncertain significance Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000804442 SCV000944353 uncertain significance Bethlem myopathy 1 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 864 of the COL6A2 protein (p.Thr864Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs200488881, ExAC 0.02%). This variant has not been reported in the literature in individuals with COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 340381). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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