ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.275T>A (p.Val92Glu)

gnomAD frequency: 0.00001  dbSNP: rs1352220911
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066588 SCV001231603 uncertain significance Charcot-Marie-Tooth disease, type I 2022-12-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 92 of the MPZ protein (p.Val92Glu). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MPZ protein function. ClinVar contains an entry for this variant (Variation ID: 860307). This variant has not been reported in the literature in individuals affected with MPZ-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%).

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