ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1000C>G (p.Gln334Glu)

gnomAD frequency: 0.00004  dbSNP: rs777252717
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231610 SCV001404138 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2019-09-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 334 of the MORC2 protein (p.Gln334Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs777252717, ExAC 0.01%). 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. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with MORC2-related conditions.

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