ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter)

dbSNP: rs1278514080
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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 RCV001915506 SCV002177450 pathogenic Congenital myasthenic syndrome 4A 2022-08-20 criteria provided, single submitter clinical testing 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1399349). This premature translational stop signal has been observed in individual(s) with clinical features of congenital myasthenic syndrome (PMID: 29702980). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg99*) 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 RCV001915506 SCV004214292 pathogenic Congenital myasthenic syndrome 4A 2024-02-12 criteria provided, single submitter clinical testing

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