ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.128C>T (p.Ala43Val)

gnomAD frequency: 0.00002  dbSNP: rs1064795511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478041 SCV000571389 likely pathogenic not provided 2016-08-22 criteria provided, single submitter clinical testing The A43V 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 6,100 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 and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the A43V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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