ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2266_2273del (p.Lys756fs)

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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 RCV003622645 SCV004410253 pathogenic Developmental and epileptic encephalopathy, 9 2023-03-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys756Profs*8) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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