ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser)

gnomAD frequency: 0.00002  dbSNP: rs780648306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652679 SCV000774550 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 710 of the MORC2 protein (p.Pro710Ser). This variant is present in population databases (rs780648306, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (internal data). ClinVar contains an entry for this variant (Variation ID: 542278). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MORC2 protein function with a negative predictive value of 80%. 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.
PreventionGenetics, part of Exact Sciences RCV003937987 SCV004765498 likely benign MORC2-related disorder 2022-08-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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