ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr) (rs1555938741)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817470 SCV000958033 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2019-11-20 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 345 of the MORC2 protein (p.Cys345Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with Charcot-Marie-Tooth disease (PMID: 28771897). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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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