ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1021C>T (p.Arg341Trp)

dbSNP: rs1597615227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814181 SCV000954582 uncertain significance Congenital myasthenic syndrome 4A 2022-07-06 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 657553). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 341 of the CHRNE protein (p.Arg341Trp).
Natera, Inc. RCV001830783 SCV002093397 uncertain significance Congenital myasthenic syndrome 2021-09-27 no assertion criteria provided clinical testing

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