ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.385_388del (p.Leu129fs)

dbSNP: rs1411229157
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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 RCV000779223 SCV000915768 uncertain significance Congenital myasthenic syndrome 2017-09-06 criteria provided, single submitter clinical testing The CHRNE c.385_388delCTCG (p.Leu129SerfsTer7) variant results in a frameshift and is predicted to cause an 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. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this 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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