ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) (rs758946412)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720403 SCV000851280 pathogenic History of neurodevelopmental disorder 2016-10-05 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes);Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family
Invitae RCV000797290 SCV000936839 pathogenic Early infantile epileptic encephalopathy 9 2019-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro364Argfs*4) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed to be de novo in an individual affected with PCDH19-related disease (PMID: 23334464) and paternally inherited in affected dizygotic twin sisters (PMID: 27527380). Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). For these reasons, this variant has been classified as Pathogenic.

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