ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1078C>T (p.Pro360Ser)

gnomAD frequency: 0.00001  dbSNP: rs998988224
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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 RCV000795060 SCV000934501 uncertain significance Congenital myasthenic syndrome 4A 2022-06-04 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) performed at Invitae indicates that this missense variant is not expected to disrupt CHRNE protein function. ClinVar contains an entry for this variant (Variation ID: 641751). 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 0.01%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 360 of the CHRNE protein (p.Pro360Ser).
Natera, Inc. RCV001830705 SCV002093392 uncertain significance Congenital myasthenic syndrome 2021-08-31 no assertion criteria provided clinical testing

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