ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.300_319del (p.His100fs)

dbSNP: rs2153311290
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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 RCV002541162 SCV002993541 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-05-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His100Glnfs*51) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1323519). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464136 SCV004206100 likely pathogenic Fetal akinesia deformation sequence 2 2023-07-05 criteria provided, single submitter clinical testing

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