ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) (rs796052790)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188327 SCV000241939 uncertain significance not provided 2016-07-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PCDH19 gene. The N75S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved in mammals. However, the N75S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000764882 SCV000896039 uncertain significance Early infantile epileptic encephalopathy 9 2018-10-31 criteria provided, single submitter clinical testing
Neurogenetics Research Program, University of Adelaide RCV001199411 SCV001147045 benign Neurodevelopmental disorder with epilepsy 2019-12-20 no assertion criteria provided research

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