ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.546_547dup (p.Leu183fs)

dbSNP: rs2153309143
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972700 SCV002247432 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu183Profs*21) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAPSN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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