ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter)

dbSNP: rs121909513
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687026 SCV000814576 pathogenic Congenital myasthenic syndrome 4A 2023-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg84*) 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 (rs121909513, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with autosomal recessive congenital myasthenic syndrome (PMID: 9158150). It has also been observed to segregate with disease in related individuals. This variant is also known as εR64X. ClinVar contains an entry for this variant (Variation ID: 18347). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001781291 SCV002019306 pathogenic not provided 2020-09-15 criteria provided, single submitter clinical testing
OMIM RCV000020015 SCV000040313 pathogenic Congenital myasthenic syndrome 4C 1997-05-01 no assertion criteria provided literature only

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