ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.361G>A (p.Asp121Asn) (rs796052795)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489751 SCV000577758 likely pathogenic not provided 2015-05-27 criteria provided, single submitter clinical testing The D121N missense change has been reported previously in a female patient with epileptic encephalopathy who had inherited it from her unaffected father (Depienne et al., 2009). In addition, de novo variants have been found in nearby residues in female patients referred to GeneDx for epilepsy genetic testing. It was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D121N 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 conserved position predicted to be within the cadherin 1 domain of the PCDH19 protein. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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