ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter)

dbSNP: rs2076368388
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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 RCV001923478 SCV002188212 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-08-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1416981). For these reasons, this variant has been classified as Pathogenic. 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.Gln238*) 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).
Baylor Genetics RCV003464238 SCV004206111 pathogenic Fetal akinesia deformation sequence 2 2024-03-20 criteria provided, single submitter clinical testing

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