ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.592G>C (p.Glu198Gln)

dbSNP: rs770994564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471110 SCV000552946 uncertain significance Charcot-Marie-Tooth disease, type I 2022-08-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs770994564, gnomAD 0.007%). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 411672). This variant has not been reported in the literature in individuals affected with MPZ-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 198 of the MPZ protein (p.Glu198Gln).
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174327 SCV001337463 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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