ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.21_39del (p.Val8fs) (rs1555985864)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485234 SCV000571457 likely pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing A novel c.21_39del19 variant that is likely pathogenic has been identified in the PCDH19 gene. The c.21_39del19 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 6,000 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 c.21_39del19 variant in the PCDH19 gene causes a frameshift starting with codon Valine 8, changes this amino acid to a Tyrosine residue and creates a premature Stop codon at position 16 of the new reading frame, denoted p.V8YfsX16. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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