ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)

gnomAD frequency: 0.00001  dbSNP: rs749364295
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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 RCV000821041 SCV000961781 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2022-06-23 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. This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 521 of the MORC2 protein (p.Asp521Tyr). This variant is present in population databases (rs749364295, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of MORC2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 663207). 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.

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