ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.3094C>T (p.Arg1032Ter)

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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 RCV003639160 SCV004535987 pathogenic Developmental and epileptic encephalopathy, 12 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1032*) in the PLCB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PLCB1 are known to be pathogenic (PMID: 24684524). This variant is not present in population databases (gnomAD no frequency). 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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