ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2221_2222delinsCT (p.Ser741Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005208322 SCV005849313 uncertain significance Developmental and epileptic encephalopathy, 9 2023-06-22 criteria provided, single submitter clinical testing The deletion insertion variant c.2221_2222delTCinsCT (p.Ser741Leu) in the PCDH19 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Ser at position 741 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ser741Leu in PCDH19 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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