ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter)

gnomAD frequency: 0.00002  dbSNP: rs145356495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000662358 SCV001228264 pathogenic Myasthenic syndrome, congenital, 22 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg295*) 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 (rs145356495, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with PREPL deficiency (PMID: 28726805). ClinVar contains an entry for this variant (Variation ID: 548713). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002285394 SCV002575479 likely pathogenic not provided 2022-03-23 criteria provided, single submitter clinical testing Identified heterozygous in a patient with features consistent with PREPL deficiency who also harbored a heterozygous deletion involving PREPL and CAMKMT, however, familial segregation information was not provided (Regal et al., 2018); 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: 31985178, 32721234, 28726805)
OMIM RCV000662358 SCV000784721 pathogenic Myasthenic syndrome, congenital, 22 2018-07-11 no assertion criteria provided literature only

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