ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1052C>G (p.Pro351Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital RCV003325176 SCV004031052 likely pathogenic Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 2023-08-29 criteria provided, single submitter clinical testing The c.1052C>G missense substitution predicts an amino acid change from from proline to arginine in codon 351 of the CHRNE protein, p.(Pro351Arg). This variant is detected in a compound heterozygous state with another likely pathogenic CHRNE variant (phase not confirmed) in a patient with a clinical diagnosis of congenital myasthenic syndrome. In silico analysis by REVEL suggests this variant to be damaging (REVEL: 0.77). It is located in the critical neurotransmitter-gated ion-channel transmembrane domain (IPR006029). Another amino acid change in the same residue location has been observed in a patient with CMS in trans with another pathogenic variant (PMID: 11408331). This variant is absent in control population (gnomAD). The current evidence allows a classification of this variant as “likely pathogenic” (ACMG criteria: PM1, PM5, PP3_moderate, PM2_supporting, PM3_supporting).

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