ClinVar Miner

Submissions for variant NM_001194.4(HCN2):c.1432_1434del (p.Glu478del)

dbSNP: rs2144522815
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774575 SCV002002042 uncertain significance not provided 2020-01-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223427 SCV003918969 likely pathogenic Neurodevelopmental delay 2023-04-20 criteria provided, single submitter research
Department of Genetics, CHU d'Angers RCV003772053 SCV004697329 pathogenic HCN2 related developmental and epileptic encephalopathy 2024-02-07 criteria provided, single submitter research

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