ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1480T>C (p.Ter494Gln)

dbSNP: rs972956416
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778502 SCV000914774 uncertain significance Congenital myasthenic syndrome 2018-10-29 criteria provided, single submitter clinical testing The CHRNE c.1480T>C (p.Ter494GlnextTer15) variant is a stop lost variant that is predicted to result in a premature termination/elongation of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. This variant is located in the last exon and may escape nonsense-mediated decay. Due to the potential impact of stop lost variants and the lack of clarifying evidence, the p.Ter494GlnextTer15 variant is classified as a variant of unknown significance but suspicious for pathogenicity for congenital myasthenic syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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