ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.595G>T (p.Glu199Ter)

dbSNP: rs1131691603
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493071 SCV000582463 pathogenic not provided 2015-09-08 criteria provided, single submitter clinical testing The E199X nonsense variant in the PCDH19 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although the E199X variant has not been reported previously to our knowledge, many other nonsense variants have been reported in association with PCDH19-related disorders (Stenson et al., 2014). Therefore, the E199X variant is interpreted as pathogenic.

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