Total submissions: 3
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 |