ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) (rs886037934)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000240855 SCV000655832 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2z 2018-12-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 236 of the MORC2 protein (p.Glu236Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Charcot-Marie-Tooth disease, type 2 (26659848, Invitae). This variant has also been reported as c.521A>G (p.Glu174Gly). ClinVar contains an entry for this variant (Variation ID: 254251). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000240855 SCV000299344 pathogenic Charcot-Marie-Tooth disease, axonal, type 2z 2017-08-04 no assertion criteria provided literature only
Genesis Genome Database RCV000857125 SCV000999703 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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