ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.705C>G (p.Ile235Met)

gnomAD frequency: 0.00002  dbSNP: rs748765369
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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 RCV001239174 SCV001412025 uncertain significance Congenital myasthenic syndrome 4A 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 235 of the CHRNE protein (p.Ile235Met). This variant is present in population databases (rs748765369, gnomAD 0.006%). 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: 964861). 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. RCV001828915 SCV002093418 uncertain significance Congenital myasthenic syndrome 2020-07-07 no assertion criteria provided clinical testing

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