ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2838C>T (p.Pro946=)

gnomAD frequency: 0.00011  dbSNP: rs552881314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721357 SCV000530805 likely benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000554783 SCV000648451 benign Brugada syndrome 8 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436329 SCV002750471 likely benign Cardiovascular phenotype 2019-05-20 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003922815 SCV004741648 likely benign HCN4-related condition 2019-05-16 criteria provided, single submitter 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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