ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1909C>A (p.Pro637Thr)

dbSNP: rs777740636
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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 RCV002018806 SCV002264997 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2022-02-06 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt MORC2 protein function. This missense change has been observed in individual(s) with clinical features of MORC2-related conditions (Invitae). This variant is present in population databases (rs777740636, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 637 of the MORC2 protein (p.Pro637Thr).

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