ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1310G>A (p.Arg437Gln)

gnomAD frequency: 0.00001  dbSNP: rs2040679348
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001220188 SCV001392164 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2021-03-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 437 of the MORC2 protein (p.Arg437Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 948848). 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. 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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