ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) (rs796052819)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188374 SCV000241986 pathogenic not provided 2014-03-17 criteria provided, single submitter clinical testing This variant is denoted p.Pro561Arg (CCG>CGG): c.1682 C>G in exon 1 of the PCDH19 gene (NM_001105243.1). The P561R missense mutation in the PCDH19 gene has been reported previously in association with epilepsy and mental retardation limited to females (EFMR) and was identified in two affected sisters and their unaffected father (Depienne et al.,2011). This mutation alters a highly conserved residue in the PCDH19 protein. Therefore, the presence of P561R is consistent with a diagnosis of a PCDH19-related disorder. The variant is found in EPILEPSY panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188374 SCV000701651 uncertain significance not provided 2016-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720392 SCV000851269 likely pathogenic History of neurodevelopmental disorder 2016-10-17 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species

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