ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp) (rs558057376)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550833 SCV000655839 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2017-07-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 264 of the MORC2 protein (p.Arg264Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs558057376, ExAC 0.01%). This variant has not been reported in the literature in individuals with MORC2-related disease. 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: "Benign"; Align-GVGD: "Class C0"). 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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