ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.276G>A (p.Val92=) (rs1558154193)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795131 SCV000934574 likely pathogenic Charcot-Marie-Tooth disease, type I 2018-10-05 criteria provided, single submitter clinical testing This sequence change affects codon 92 of the MPZ mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MPZ protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Charcot–Marie–Tooth disease type 1B (CMT1B) in a family (PMID: 19475438). This variant is also known as c.306G>A, p.Val102Val in the literature. Experimental studies have shown that this silent change produces a shorter 157-bp fragment leading to exon 3 skipping (PMID: 19475438). 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.
OMIM RCV000015264 SCV000035523 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2010-02-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790070 SCV000929460 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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