ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2708C>G (p.Thr903Ser)

gnomAD frequency: 0.00001  dbSNP: rs762499940
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001366497 SCV001562799 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2021-02-22 criteria provided, single submitter clinical testing 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 variant has not been reported in the literature in individuals with MORC2-related conditions. This variant is present in population databases (rs762499940, ExAC 0.003%). This sequence change replaces threonine with serine at codon 903 of the MORC2 protein (p.Thr903Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. 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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