ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)

dbSNP: rs1553259790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638176 SCV000759662 pathogenic Charcot-Marie-Tooth disease, type I 2023-11-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 51 of the MPZ protein (p.Ser51Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Charcot-Marie-Tooth disease (PMID: 11437164, 19293842, 23649551, 24819634). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 531693). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MPZ protein function. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001815361 SCV002062842 pathogenic not provided 2021-12-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789497 SCV000928853 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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