ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.53G>C (p.Gly18Ala)

dbSNP: rs4790235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641736 SCV000763384 uncertain significance Congenital myasthenic syndrome 4A 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 18 of the CHRNE protein (p.Gly18Ala). This variant is present in population databases (rs4790235, gnomAD 0.005%). 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: 534251). 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. RCV001835037 SCV002087537 uncertain significance Congenital myasthenic syndrome 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004547810 SCV004121262 uncertain significance CHRNE-related disorder 2024-04-02 no assertion criteria provided clinical testing The CHRNE c.53G>C variant is predicted to result in the amino acid substitution p.Gly18Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0053% 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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