ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.361G>T (p.Gly121Ter)

dbSNP: rs1187421976
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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 RCV000819423 SCV000960081 pathogenic Congenital myasthenic syndrome 4A 2018-09-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). This variant has not been reported in the literature in individuals with CHRNE-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly121*) in the CHRNE gene. It is expected to result in an absent or disrupted protein product.

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