ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)

gnomAD frequency: 0.00001  dbSNP: rs1022583382
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537684 SCV000636224 uncertain significance Charcot-Marie-Tooth disease, type I 2022-12-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. ClinVar contains an entry for this variant (Variation ID: 462781). This variant has not been reported in the literature in individuals affected with PMP22-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 160 of the PMP22 protein (p.Glu160Lys).
Fulgent Genetics, Fulgent Genetics RCV000764105 SCV000895073 uncertain significance Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649192 SCV005155487 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.478G>A (p.E160K) alteration is located in exon 5 (coding exon 4) of the PMP22 gene. This alteration results from a G to A substitution at nucleotide position 478, causing the glutamic acid (E) at amino acid position 160 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.