ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.172C>G (p.Leu58Val) (rs760345377)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798700 SCV000938327 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2018-12-06 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 58 of the MORC2 protein (p.Leu58Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs760345377, ExAC 0.002%). This variant has not been reported in the literature in individuals with MORC2-related conditions. 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: "Benign"; Align-GVGD: "Class 0"). 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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