ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.5734G>A (p.Glu1912Lys) (rs113251155)

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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 RCV000593713 SCV000702183 uncertain significance not provided 2016-10-05 criteria provided, single submitter clinical testing
Invitae RCV000543905 SCV000657350 uncertain significance Bethlem myopathy 1 2017-12-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1912 of the COL6A3 protein (p.Glu1912Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs113251155, ExAC 0.001%). This variant 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 and their clinical significance is uncertain. 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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