Submissions for variant NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer)

dbSNP: rs1423995073

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000532386	SCV000641242	pathogenic	Congenital myasthenic syndrome 4A	2023-12-05	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu396Aspfs*3) in the CHRNE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with autosomal recessive congenital myasthenic syndrome (PMID: 28024842). ClinVar contains an entry for this variant (Variation ID: 465857). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity	RCV001783050	SCV002019303	pathogenic	not provided	2019-01-11	criteria provided, single submitter	clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV002468588	SCV002764972	pathogenic	Congenital myasthenic syndrome 4C	2021-01-29	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000532386	SCV005058446	pathogenic	Congenital myasthenic syndrome 4A	2024-01-24	criteria provided, single submitter	clinical testing