ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2395G>A (p.Val799Met)

gnomAD frequency: 0.00001  dbSNP: rs370149816
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236067 SCV001408779 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2021-01-19 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 799 of the MORC2 protein (p.Val799Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. 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. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with MORC2-related conditions. This variant is present in population databases (rs370149816, ExAC 0.003%).

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