ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs)

dbSNP: rs2151094729
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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 RCV001960611 SCV002231174 pathogenic Congenital myasthenic syndrome 4A 2022-01-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.1021ins20. This premature translational stop signal has been observed in individual(s) with clinical features of congenital myasthenic syndrome (PMID: 14532324). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu361Glyfs*31) 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).
Baylor Genetics RCV001960611 SCV004214260 pathogenic Congenital myasthenic syndrome 4A 2023-04-30 criteria provided, single submitter clinical testing

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