ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1093G>A (p.Ala365Thr)

gnomAD frequency: 0.00001  dbSNP: rs780327519
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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 RCV001319971 SCV001510738 uncertain significance Congenital myasthenic syndrome 4A 2021-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 365 of the CHRNE protein (p.Ala365Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs780327519, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. 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. RCV001835602 SCV002093391 uncertain significance Congenital myasthenic syndrome 2020-01-17 no assertion criteria provided clinical testing

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