ClinVar Miner

Submissions for variant NC_000020.10:g.(?_8696891)_(8698515_?)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 RCV003119531 SCV003793976 pathogenic Developmental and epileptic encephalopathy, 12 2022-07-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 13-14 of the PLCB1 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 PLCB1 are known to be pathogenic (PMID: 24684524). This variant has not been reported in the literature in individuals affected with PLCB1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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