Submissions for variant NM_000304.4(PMP22):c.281del (p.Gly94fs)

dbSNP: rs80338763

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001388384	SCV001589350	pathogenic	Charcot-Marie-Tooth disease, type I	2024-10-22	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gly94Alafs*17) in the PMP22 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 67 amino acid(s) of the PMP22 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CMT and Dejerine‚àíSottas syndrome (PMID: 9324088, 11545686, 11835375, 19067730, 26392352). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 30158). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic	RCV001507376	SCV001712897	pathogenic	not provided	2020-07-30	criteria provided, single submitter	clinical testing	PVS1_Strong, PS4_Moderate, PM2, PM6, PP4
OMIM	RCV000023074	SCV000044365	pathogenic	Charcot-Marie-Tooth disease, type IA	2009-03-01	no assertion criteria provided	literature only
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	RCV000755044	SCV000882762	pathogenic	Charcot-Marie-Tooth disease type 1E	2019-02-11	no assertion criteria provided	research
Inherited Neuropathy Consortium	RCV000790158	SCV000929549	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only
Genesis Genome Database	RCV000790158	SCV000999589	uncertain significance	Charcot-Marie-Tooth disease	2019-08-14	no assertion criteria provided	research