ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.427C>T (p.Arg143Ter)

gnomAD frequency: 0.00002  dbSNP: rs1361739547
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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 RCV000695113 SCV000823593 pathogenic Myasthenic syndrome, congenital, 22 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg232*) 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 present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PREPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 573441). For these reasons, this variant has been classified as Pathogenic.

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