ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys)

gnomAD frequency: 0.00013  dbSNP: rs757968612
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000285354 SCV000336893 uncertain significance not provided 2015-11-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765367 SCV000896632 uncertain significance Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000805415 SCV000945370 uncertain significance Congenital myasthenic syndrome 4A 2022-09-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 348 of the CHRNE protein (p.Glu348Lys). This variant is present in population databases (rs757968612, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 284315). 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 not expected to disrupt CHRNE protein function. 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.
Revvity Omics, Revvity RCV000285354 SCV003830603 uncertain significance not provided 2019-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343740 SCV004060532 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.1042G>A (p.E348K) alteration is located in exon 10 (coding exon 10) of the CHRNE gene. This alteration results from a G to A substitution at nucleotide position 1042, causing the glutamic acid (E) at amino acid position 348 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833333 SCV002093395 uncertain significance Congenital myasthenic syndrome 2020-02-26 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004737413 SCV005341712 uncertain significance CHRNE-related disorder 2024-09-04 no assertion criteria provided clinical testing The CHRNE c.1042G>A variant is predicted to result in the amino acid substitution p.Glu348Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% of alleles in individuals of European (non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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