ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.384_394del (p.Phe129fs)

dbSNP: rs1928462092
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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 RCV001201946 SCV001373041 pathogenic Developmental and epileptic encephalopathy, 9 2022-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe129Thrfs*93) 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: 933682). For these reasons, this variant has been classified as Pathogenic.

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