Submissions for variant NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn) (rs150980372)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000652685	SCV000774556	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2z	2018-03-19	criteria provided, single submitter	clinical testing	This sequence change replaces lysine with asparagine at codon 24 of the MORC2 protein (p.Lys24Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs150980372, ExAC 0.02%). 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: "Tolerated"; 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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