ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1676del (p.Asn559fs)

dbSNP: rs1569314475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680057 SCV000807497 pathogenic Developmental and epileptic encephalopathy, 9 2017-09-01 criteria provided, single submitter clinical testing This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory paternally inherited in a 10-year-old female with epilepsy, autism, developmental delay, constipation, and epilepsy in a sister (not tested)
Labcorp Genetics (formerly Invitae), Labcorp RCV000680057 SCV003235541 pathogenic Developmental and epileptic encephalopathy, 9 2022-09-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 561073). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn559Thrfs*10) 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).

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