ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) (rs1569315876)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000758011 SCV000882533 likely pathogenic Early infantile epileptic encephalopathy 9 criteria provided, single submitter research
Invitae RCV000758011 SCV001388106 pathogenic Early infantile epileptic encephalopathy 9 2019-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr154*) 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 to be de novo in an individual affected with epilepsy and intellectual disability (PMID: 28669061). ClinVar contains an entry for this variant (Variation ID: 619130). 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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