ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2733G>A (p.Trp911Ter)

dbSNP: rs1555955268
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002286764 SCV000714538 likely pathogenic not provided 2022-05-10 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 50 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene

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