ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.159C>G (p.His53Gln)

gnomAD frequency: 0.00019  dbSNP: rs10066808
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457427 SCV000541529 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313153 SCV000847662 benign Inborn genetic diseases 2019-04-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000734431 SCV000862573 likely benign not specified 2018-07-25 criteria provided, single submitter clinical testing
GeneDx RCV001764368 SCV001989370 benign not provided 2021-06-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001764368 SCV004162819 benign not provided 2022-07-01 criteria provided, single submitter clinical testing HCN1: BS1, BS2

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