ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)

dbSNP: rs1553259707
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003581727 SCV004293778 pathogenic Charcot-Marie-Tooth disease, type I 2022-10-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 637783). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 25429913). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 82 of the MPZ protein (p.Tyr82Ser). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Tyr82 amino acid residue in MPZ. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16543539). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.
Inherited Neuropathy Consortium RCV000790097 SCV000929487 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.