ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2147+1G>A

dbSNP: rs1555984947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579137 SCV000681078 pathogenic not provided 2017-11-08 criteria provided, single submitter clinical testing The c.2147+1 G>A pathogenic splice site variant in the PCDH19 gene destroys the canonical splice donor site in intron 1. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.2147+1 G>A variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of aPCDH19-related disorder in this individual.
CeGaT Center for Human Genetics Tuebingen RCV000579137 SCV001249607 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing

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