ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1579_2057delinsTCTCTGC (p.Lys527fs)

dbSNP: rs2520975681
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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 RCV003038748 SCV003327082 pathogenic Developmental and epileptic encephalopathy, 9 2023-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys527Serfs*11) 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. ClinVar contains an entry for this variant (Variation ID: 2113384). For these reasons, this variant has been classified as Pathogenic.

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