ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter)

dbSNP: rs2153309050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783664 SCV002019023 likely pathogenic not provided 2021-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868867 SCV002136991 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-01-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1324987). 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.Glu227*) 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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