ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.971del (p.Ile324fs)

gnomAD frequency: 0.00003  dbSNP: rs879255562
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000326857 SCV000329296 pathogenic not provided 2023-07-20 criteria provided, single submitter clinical testing Using alternate nomenclature (c.911delT), reported in association with autosomal recessive congenital myasthenia syndrome when in trans with another disease-causing variant (Sieb et al., 2000; Burke et al., 2004; Muller et al., 2005); Expression of variant in HEK 293 cells showed decreased cell surface expression of the protein (Burke et al., 2004); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11030414, 15145336, 16087917, 9443457, 29395675)
Eurofins Ntd Llc (ga) RCV000326857 SCV000340606 pathogenic not provided 2016-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000641735 SCV000763383 pathogenic Congenital myasthenic syndrome 4A 2024-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile324Thrfs*61) in the CHRNE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with autosomal recessive congenital myasthenic syndromes (PMID: 11030414, 16087917). This variant is also known as 911delT. ClinVar contains an entry for this variant (Variation ID: 18348). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000326857 SCV002019305 pathogenic not provided 2019-05-24 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002288513 SCV002581417 likely pathogenic Congenital myasthenic syndrome 4B 2022-08-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000641735 SCV004212569 pathogenic Congenital myasthenic syndrome 4A 2024-03-20 criteria provided, single submitter clinical testing
OMIM RCV000020016 SCV000040314 pathogenic Congenital myasthenic syndrome 4C 2005-08-09 no assertion criteria provided literature only
Natera, Inc. RCV001271737 SCV001453129 pathogenic Congenital myasthenic syndrome 2020-09-16 no assertion criteria provided clinical testing

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