ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.259C>T (p.Pro87Ser)

gnomAD frequency: 0.00021  dbSNP: rs370113959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547258 SCV000634001 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316539 SCV000850136 likely benign Inborn genetic diseases 2016-12-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV003960287 SCV004778368 likely benign HCN1-related disorder 2023-05-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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