ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.288del (p.Cys97fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003471786 SCV004206092 likely pathogenic Fetal akinesia deformation sequence 2 2023-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779088 SCV004590266 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys97Alafs*31) 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).

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