ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1425_1426del (p.Ser476fs)

dbSNP: rs2147538796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383068 SCV001582088 pathogenic Developmental and epileptic encephalopathy, 9 2024-03-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser476Cysfs*46) 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 premature translational stop signal has been observed in individual(s) with clinical features of early infantile epileptic encephalopathy (PMID: 30182498). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic.
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV004570946 SCV004175169 pathogenic not provided 2022-10-15 no assertion criteria provided clinical testing

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