ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)

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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 RCV003062376 SCV003439864 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln325*) 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 premature translational stop signal has been observed in individual(s) with RAPSN-related conditions (PMID: 19620612). ClinVar contains an entry for this variant (Variation ID: 2137089). 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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