ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.447_459del (p.Val150fs)

dbSNP: rs1970005446
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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 RCV001218233 SCV001390106 pathogenic Congenital myasthenic syndrome 4A 2019-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val150Thrfs*29) in the CHRNE gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CHRNE-related conditions. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). For these reasons, this variant has been classified as Pathogenic.
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town RCV003991480 SCV004808386 pathogenic Congenital myasthenic syndrome 4C 2024-05-22 criteria provided, single submitter research PM2_Supporting: variant absent from gnomAD v4.0 (coverage >20X confirmed). PM3_Supporting: homozygous observation of variant in proband under assessment. 0.5 points awarded. PS4 Not Met: Variant reported in ClinVar by Invitae (SCV001390106.5) but no phenotype information provided therefore evidence not considered under PS4. PVS1_Met: null variant (frameshift variant, predicted to undergo NMD, exon is present in biologically relevant transcript) in a gene where LOF is a known mechanism of disease (PMID: 22678886). Sequencing funded by the International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD): https://www.ucl.ac.uk/genomic-medicine-neuromuscular-diseases/.

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