ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4873G>T (p.Val1625Leu) (rs398124121)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555366 SCV000657328 uncertain significance Bethlem myopathy 1 2017-04-03 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 1625 of the COL6A3 protein (p.Val1625Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs398124121, ExAC 0.009%) but has not been reported in the literature in individuals with a COL6A3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but 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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