ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) (rs1555985301)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517162 SCV000614412 pathogenic not provided 2017-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000517162 SCV000890637 pathogenic not provided 2018-09-27 criteria provided, single submitter clinical testing The S378X nonsense variant in the PCDH19 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S378X variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with the diagnosis of a PCDH19-related disorder in this individual.
Invitae RCV001064734 SCV001229652 pathogenic Early infantile epileptic encephalopathy 9 2019-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser378*) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of early infantile epileptic encephalopathy (PMID: 30287595). ClinVar contains an entry for this variant (Variation ID: 447916). Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001064734 SCV001245209 pathogenic Early infantile epileptic encephalopathy 9 2020-02-14 criteria provided, single submitter clinical testing

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