Submissions for variant NM_005055.5(RAPSN):c.193-5_201del

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV003471787	SCV004206104	likely pathogenic	Fetal akinesia deformation sequence 2	2023-05-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003779089	SCV004578883	likely pathogenic	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11	2023-01-14	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). This variant results in the deletion of part of exon 2 (c.193-5_201del) of the RAPSN gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RAPSN are known to be pathogenic (PMID: 17686188). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV005051317	SCV005684667	likely pathogenic	Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2	2024-03-12	criteria provided, single submitter	clinical testing