ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) (rs756414485)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188378 SCV000241990 pathogenic not provided 2016-08-24 criteria provided, single submitter clinical testing The R886X nonsense variant in thePCDH19 gene has been previously reported to segregate with epilepsy in several females from a single family who had febrile, generalized, and/or focal seizures, one of whom also had cognitive delay (Depienne et al., 2011). The R886X variant has also been reported as a de novo change in a female with early onset epilepsy (Higurashi et al., 2013). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret R886X as a pathogenic variant and its presence is consistent with a diagnosis of a PCDH19-related disorder
Athena Diagnostics Inc RCV000188378 SCV000614416 pathogenic not provided 2017-02-16 criteria provided, single submitter clinical testing

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