ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter)

gnomAD frequency: 0.00001  dbSNP: rs748103983
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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 RCV001390290 SCV001591971 pathogenic Congenital myasthenic syndrome 4A 2023-05-22 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: 1076387). This variant is also known as p.Y8X. This premature translational stop signal has been observed in individual(s) with autosomal recessive congenital myasthenic syndrome (PMID: 20157724). This variant is present in population databases (rs748103983, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Tyr28*) 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).
Natera, Inc. RCV001831403 SCV002087535 pathogenic Congenital myasthenic syndrome 2020-05-14 no assertion criteria provided clinical testing

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