ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val) (rs1602485728)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215495 SCV001387243 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2019-10-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 406 of the MORC2 protein (p.Ala406Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with Charcot-Marie-Tooth disease type 2 (Invitae). 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: "Tolerated"; PolyPhen-2: "Benign"; 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.
Genesis Genome Database RCV000857119 SCV000999697 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
Inherited Neuropathy Consortium RCV001027506 SCV001190081 uncertain significance not provided no assertion criteria provided provider interpretation

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