ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)

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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 RCV003058311 SCV003440399 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-08-02 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: 2137088). This premature translational stop signal has been observed in individual(s) with clinical features of congenital myasthenic syndrome (PMID: 22678886). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys330*) 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 RCV003465922 SCV004206091 pathogenic Fetal akinesia deformation sequence 2 2023-09-05 criteria provided, single submitter clinical testing

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