ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1032+1G>A

dbSNP: rs1458613529
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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 RCV002017387 SCV002287596 likely pathogenic Congenital myasthenic syndrome 4A 2021-11-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 9 and introduces a premature termination codon (PMID: 11408331). The resulting mRNA is expected to undergo nonsense-mediated decay. Disruption of this splice site has been observed in individual(s) with congenital myasthenic syndrome (PMID: 11408331). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects a donor splice site in intron 9 of the CHRNE gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.
Baylor Genetics RCV002017387 SCV004212591 likely pathogenic Congenital myasthenic syndrome 4A 2023-09-11 criteria provided, single submitter clinical testing

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