ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu) (rs1602496057)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820512 SCV000961228 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2018-09-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 70 of the MORC2 protein (p.Arg70Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease type 2Z (PMID: 27105897). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly 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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