ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.370G>T (p.Asp124Tyr) (rs796052797)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188347 SCV000241959 likely pathogenic not provided 2016-09-20 criteria provided, single submitter clinical testing The Asp124Tyr missense change has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 5,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Asp124Tyr is a non-conservative amino acid substitution as a negatively charged Aspartic acid residue is replaced with an uncharged Tyrosine reside. The variant occurs in the first cadherin domain at a highly conserved position in the protein. Multiple in silico algorithms predict that Asp124Tyr is damaging to the structure/function of the PCDH19 protein. Therefore, based on the currently available information, Asp124Tyr is a strong candidate for a pathogenic variant, although the possibility that it is a benign variant cannot be excluded. This variant has been observed de novo without verified parentage.The variant is found in CHILD-EPI panel(s).

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