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 2021-12-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with RAPSN-related conditions (PMID: 19620612). This variant is not present in population databases (gnomAD no frequency). 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).

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