ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala) (rs748216749)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652681 SCV000774552 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2018-01-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 57 of the MORC2 protein (p.Thr57Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs748216749, ExAC 0.002%). This variant has not been reported in the literature in individuals with MORC2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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