ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.373G>A (p.Asp125Asn)

gnomAD frequency: 0.00001  dbSNP: rs1056080125
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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 RCV001347826 SCV001542106 uncertain significance Congenital myasthenic syndrome 4A 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 125 of the CHRNE protein (p.Asp125Asn). This variant is not present in population databases (gnomAD no frequency). 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: 1043682). 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.
Natera, Inc. RCV001825942 SCV002087528 uncertain significance Congenital myasthenic syndrome 2020-03-17 no assertion criteria provided clinical testing

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