ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1753+1G>T

gnomAD frequency: 0.00009  dbSNP: rs148092524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803880 SCV000943767 likely pathogenic Myasthenic syndrome, congenital, 22 2024-01-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 of the PREPL gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PREPL are known to be pathogenic (PMID: 24610330, 28726805, 29913539). This variant is present in population databases (rs148092524, gnomAD 0.1%). 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: 649028). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity RCV000803880 SCV002019510 pathogenic Myasthenic syndrome, congenital, 22 2019-11-21 criteria provided, single submitter clinical testing

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