ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)

gnomAD frequency: 0.00001  dbSNP: rs121913596
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558954 SCV000636237 pathogenic Charcot-Marie-Tooth disease, type I 2023-12-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 35 of the MPZ protein (p.Asp35Asn). This variant is present in population databases (no rsID available, gnomAD 0.005%). This missense change has been observed in individuals with Charcot-Marie-Tooth disease (CMT) (PMID: 20385006, 24053775, 24444136). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 462790). 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 with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995582 SCV001149841 pathogenic Charcot-Marie-Tooth disease type 2I 2019-10-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001093015 SCV001249790 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790058 SCV000929448 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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