ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) (rs1569192110)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694058 SCV000822485 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2018-03-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 398 of the MORC2 protein (p.Gly398Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. 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 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.
GenomeConnect, ClinGen RCV000694058 SCV000986735 not provided Charcot-Marie-Tooth disease, axonal, type 2z no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 02/27/2018 by GTR ID Invitae. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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