ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1429del (p.Ala477fs)

dbSNP: rs1396286715
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780501 SCV002019298 pathogenic not provided 2019-07-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482305 SCV002775085 likely pathogenic Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 2022-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470898 SCV004214249 pathogenic Congenital myasthenic syndrome 4A 2023-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003470898 SCV005834435 uncertain significance Congenital myasthenic syndrome 4A 2024-05-20 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the CHRNE gene (p.Ala477Profs*30). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acid(s) of the CHRNE protein and extend the protein by 12 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.003%). This frameshift has been observed in individual(s) with CHRNE-related conditions (PMID: 30369941). ClinVar contains an entry for this variant (Variation ID: 1322081). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004738379 SCV005361202 likely pathogenic CHRNE-related disorder 2024-08-26 no assertion criteria provided clinical testing The CHRNE c.1429delG variant is predicted to result in a frameshift and premature protein termination (p.Ala477Profs*30). This variant has been reported in the compound heterozygous state in an affected individual with phenotypes consistent with CHRNE-related myasthenic syndrome (Theunissen et al. 2018. PubMed ID: 30369941). This variant is reported in 0.0028% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in CHRNE are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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