ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter)

dbSNP: rs749287203
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387007 SCV001587487 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-02-27 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: 1073877). This premature translational stop signal has been observed in individual(s) with clinical features of congenital myasthenic syndrome (PMID: 14729848). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys97*) 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).
Revvity Omics, Revvity RCV001780357 SCV002019639 pathogenic not provided 2019-08-20 criteria provided, single submitter clinical testing
GeneDx RCV001780357 SCV005437444 pathogenic not provided 2024-06-13 criteria provided, single submitter clinical testing Observed with the founder pathogenic p.(N88K) variant on the opposite allele (in trans) in association with features of RAPSN-related myasthenia in published literature (PMID: 19620612, 14729848); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17686188, 38511267, 36815443, 19620612, 14729848)
Fulgent Genetics, Fulgent Genetics RCV005050369 SCV005684663 pathogenic Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 2024-05-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826172 SCV002089167 pathogenic Congenital myasthenic syndrome 2020-03-18 no assertion criteria provided clinical testing

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