ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser)

dbSNP: rs1597621396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001836912 SCV000999247 likely pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001377986 SCV001575450 pathogenic Congenital myasthenic syndrome 4A 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 148 of the CHRNE protein (p.Cys148Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal recessive congenital myasthenic syndrome and/or clinical features of CHRNE-related conditions (PMID: 9539130; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as C128S. ClinVar contains an entry for this variant (Variation ID: 694659). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CHRNE protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects CHRNE function (PMID: 9539130). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784471 SCV002022552 likely pathogenic not provided 2019-06-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825706 SCV002093430 likely pathogenic Congenital myasthenic syndrome 2020-03-23 no assertion criteria provided clinical testing

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