ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1357G>A (p.Asp453Asn)

gnomAD frequency: 0.00001  dbSNP: rs1007541711
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001346353 SCV001540547 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2020-09-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 453 of the MORC2 protein (p.Asp453Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MORC2-related conditions. 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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