ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter)

dbSNP: rs1555954074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548702 SCV000639468 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2021-08-13 criteria provided, single submitter clinical testing
GeneDx RCV001567324 SCV001790987 likely pathogenic not provided 2019-09-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31313283)

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