ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688838 SCV000816462 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2018-06-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 523 of the MORC2 protein (p.Arg523Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs548292999, ExAC 0.01%). This variant has been observed in a family affected with Charcot-Marie-Tooth disease type 2 (CMT2), but this variant did not segregate with disease in that family (PMID: 26659848). 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 C15"). 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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