ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) (rs772837341)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519539 SCV000617394 likely pathogenic not provided 2017-10-06 criteria provided, single submitter clinical testing The R198L variant in the PCDH19 gene has been reported previously in a female with early-onset seizures and autistic features (Higurashi et al., 2013). The R198L variant is not observed in large population cohorts (Lek et al., 2016). The R198L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678823 SCV000805009 likely pathogenic developmental delay with seizures 2016-08-30 no assertion criteria provided clinical testing

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