ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.619A>G (p.Ile207Val)

dbSNP: rs1422386099
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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 RCV001233368 SCV001405958 uncertain significance Congenital myasthenic syndrome 4A 2023-07-03 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CHRNE protein function. ClinVar contains an entry for this variant (Variation ID: 959930). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 207 of the CHRNE protein (p.Ile207Val).
Natera, Inc. RCV001834024 SCV002093421 uncertain significance Congenital myasthenic syndrome 2020-03-11 no assertion criteria provided clinical testing

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