Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003062377 | SCV003440400 | pathogenic | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 | 2022-12-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with congenital myasthenic syndrome (PMID: 26782015, 29054425). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln120Serfs*8) in the RAPSN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAPSN are known to be pathogenic (PMID: 17686188). |