ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)

dbSNP: rs773929089
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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 RCV001938516 SCV002197071 pathogenic Congenital myasthenic syndrome 4A 2022-11-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1417628). This variant is also known as c.787C>T (p.Gln263X). This premature translational stop signal has been observed in individual(s) with clinical features of congenital myasthenic syndrome (PMID: 22678886). This variant is present in population databases (rs773929089, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln283*) 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).
Fulgent Genetics, Fulgent Genetics RCV002491896 SCV002799504 likely pathogenic Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 2022-02-18 criteria provided, single submitter clinical testing

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