ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) (rs1057521256)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514200 SCV000610316 likely pathogenic not provided 2017-05-03 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660226 SCV000782227 likely pathogenic Early infantile epileptic encephalopathy 9 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660226 SCV001396504 pathogenic Early infantile epileptic encephalopathy 9 2019-06-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr605*) 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 not been reported in the literature in individuals with PCDH19-related conditions. ClinVar contains an entry for this variant (Variation ID: 445698). 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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