ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1192C>T (p.Gln398Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003085244 SCV003485054 pathogenic Congenital myasthenic syndrome 4A 2023-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln398*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 2170253). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.

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