ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.-31_-28del

dbSNP: rs1553360075
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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 RCV000553733 SCV000660113 pathogenic Myasthenic syndrome, congenital, 22 2021-10-21 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: 478314). This variant has not been reported in the literature in individuals affected with PREPL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln80Lysfs*16) 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).

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