ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.199_207del (p.Ser67_Pro69del) (rs796052840)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188402 SCV000242014 uncertain significance not specified 2014-08-12 criteria provided, single submitter clinical testing The c.199_207delTCGGCTCCA variant and the c.218insG variants are found in cis in the PCDH19 gene. Together, these variants (aka c.199_218del20ins12) cause a frameshift starting with codon Serine 67, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Ser67HisfsX19. This is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although neither of these variants have been seen independently or in cis, their presence on the same allele is consistent with a diagnosis of a PCDH19-related disorder.The variant is found in EPILEPSY panel(s).

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