ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1752_1759del (p.Tyr585fs)

dbSNP: rs796052833
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188394 SCV000242006 pathogenic not provided 2014-02-03 criteria provided, single submitter clinical testing This variant is denoted c.1752_1759delCTACCTGG: p.Tyr585AspfsX10 (Y585DfsX10) in exon 1 of the PCDH19 gene (NM_001105243.1). The c.1752_1759delCTACCTGG mutation in the PCDH19 gene causes a frameshift starting with codon Tyrosine 585, changes this amino acid to an Aspartic acid residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Tyr585AspfsX10. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of a PCDH19-related disorder. The variant is found in INFANT-EPI panel(s).

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