ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.449G>T (p.Gly150Val)

dbSNP: rs879253954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857035 SCV002237756 pathogenic Charcot-Marie-Tooth disease, type I 2022-06-27 criteria provided, single submitter clinical testing 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) performed at Invitae indicates that this missense variant is expected to disrupt PMP22 protein function. ClinVar contains an entry for this variant (Variation ID: 433198). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 28600779, 32719652). 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 glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 150 of the PMP22 protein (p.Gly150Val). This variant disrupts the p.Gly150 amino acid residue in PMP22. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8995589, 9544841, 26392352). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Goettingen RCV000499331 SCV000590822 pathogenic Charcot-Marie-Tooth disease type 1E; Dejerine-Sottas disease no assertion criteria provided clinical testing

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