ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly) (rs1555942389)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530209 SCV000655829 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2017-02-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 12 of the MORC2 protein (p.Asp12Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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