ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.620G>C (p.Arg207Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817065 SCV000957603 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2018-08-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 207 of the EMD protein (p.Arg207Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs782352489, ExAC 0.08%). This variant has not been reported in the literature in individuals with EMD-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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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