ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.9116C>T (p.Thr3039Met) (rs116655315)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000344053 SCV000342779 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing
Invitae RCV000653541 SCV000775422 uncertain significance Bethlem myopathy 1 2018-08-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 3039 of the COL6A3 protein (p.Thr3039Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs116655315, ExAC 0.08%). This variant has not been reported in the literature in individuals with COL6A3-related disease. ClinVar contains an entry for this variant (Variation ID: 288613). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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