ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) (rs201989363)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521156 SCV000617392 likely pathogenic not provided 2017-07-18 criteria provided, single submitter clinical testing The P567L variant in the PCDH19 gene has been reported previously in several females with epilepsy and intellectual disability, including at least one family where the variant was inherited from an asymptomatic mother and at least one family where the variant was apparently de novo (Depienne et al., 2011; Marini et al., 2012; Cappelletti et al., 2015). The P567L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P567L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, but in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P567L as a likely pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763636 SCV000894506 pathogenic Early infantile epileptic encephalopathy 9 2018-10-31 criteria provided, single submitter clinical testing

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