ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.531+1G>A

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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 RCV003791216 SCV004584546 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-08-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 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 is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of congenital myasthenic syndrome (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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