ClinVar Miner

Submissions for variant NC_000002.11:g.(?_44565470)_(44566522_?)del

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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 RCV003116493 SCV003794941 pathogenic Myasthenic syndrome, congenital, 22 2023-11-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6-7 of the PREPL gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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 has not been reported in the literature in individuals affected with PREPL-related conditions. For these reasons, this variant has been classified as Pathogenic.

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