ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)

dbSNP: rs1468741050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003581717 SCV004293776 likely pathogenic Charcot-Marie-Tooth disease, type I 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 110 of the MPZ protein (p.Gly110Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with MPZ-related conditions (PMID: 12497641). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 637321). 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 expected to disrupt MPZ protein function. Experimental studies have shown that this missense change affects MPZ function (PMID: 29687021). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Inherited Neuropathy Consortium RCV000789430 SCV000928785 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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