ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp)

gnomAD frequency: 0.00002  dbSNP: rs754001856
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595379 SCV000706046 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001210603 SCV001382099 uncertain significance Congenital myasthenic syndrome 4A 2022-04-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 40 of the CHRNE protein (p.Arg40Trp). This variant is present in population databases (rs754001856, gnomAD 0.003%). This missense change has been observed in individual(s) with congnital myasthenic gravis (Invitae). ClinVar contains an entry for this variant (Variation ID: 500208). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002483618 SCV002786872 uncertain significance Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 2021-09-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000595379 SCV003830613 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835868 SCV002087534 uncertain significance Congenital myasthenic syndrome 2020-08-03 no assertion criteria provided clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV001210603 SCV004101042 uncertain significance Congenital myasthenic syndrome 4A 2023-11-02 no assertion criteria provided clinical testing

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