ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.75del (p.Val26fs)

dbSNP: rs1675812434
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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 RCV001054169 SCV001218471 pathogenic Myasthenic syndrome, congenital, 22 2023-02-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Val115Leufs*39) in the PREPL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PREPL are known to be pathogenic (PMID: 24610330, 28726805, 29913539). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with PREPL deficiency (PMID: 29483676). ClinVar contains an entry for this variant (Variation ID: 850079). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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