ClinVar Miner

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

dbSNP: rs886037934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000240855 SCV000655832 pathogenic Charcot-Marie-Tooth disease axonal type 2Z 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 236 of the MORC2 protein (p.Glu236Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Charcot-Marie-Tooth disease type 2 (PMID: 26659848; Invitae). This variant is also known as c.521A>G (p.Glu174Gly). ClinVar contains an entry for this variant (Variation ID: 254251). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MORC2 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as 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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