ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.875_879dup (p.His294fs)

dbSNP: rs1555985416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598651 SCV000710605 pathogenic not provided 2018-02-02 criteria provided, single submitter clinical testing The c.875_879dupACCCG variant in the PCDH19 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.875_879dupACCCG variant causes a frameshift starting with codon Histidine 294, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.His294ThrfsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.875_879dupACCCG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.875_879dupACCCG as a pathogenic variant.
Invitae RCV000689380 SCV000817028 pathogenic Developmental and epileptic encephalopathy, 9 2018-01-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). This variant has not been reported in the literature in individuals with PCDH19-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His294Thrfs*13) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product.

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