ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.298_300ATC[1] (p.Ile101del) (rs796052825)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188385 SCV000241997 likely pathogenic not provided 2016-07-13 criteria provided, single submitter clinical testing This variant is denoted c.301_303delATC: p.Ile101del (I101del) in exon 1 of the PCDH19 gene (NM_001105243.1). The c.301_303delATC variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame deletion of a single Isoleucine residue at a poorly conserved position in the first extracellular cadherin domain of the PCDH19 protein. Based on the currently available information, c.301_303delATC is a disease-causing mutation; however, the possibility that it is a benign variant cannot be completely excluded. This variant has been observed de novo without verified parentage. The variant is found in CHILD-EPI,INFANT-EPI panel(s).

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