ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)

dbSNP: rs1928407580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001368522 SCV001564918 uncertain significance Developmental and epileptic encephalopathy, 9 2021-08-31 criteria provided, single submitter clinical testing
GeneDx RCV003117667 SCV003798666 likely pathogenic not provided 2023-02-03 criteria provided, single submitter clinical testing Published functional studies suggest this variant results in impairment of protein expression, however additional studies are needed to validate the functional effect of this variant in vivo (Pham et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34082468)
Neurogenetics Research Program, University of Adelaide RCV001199421 SCV001147055 likely pathogenic Glycine encephalopathy; Developmental and epileptic encephalopathy, 9 2019-12-20 no assertion criteria provided research

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