ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2652C>T (p.Pro884=)

gnomAD frequency: 0.00006  dbSNP: rs373814254
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517547 SCV000613591 likely benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV000528383 SCV000648446 likely benign Brugada syndrome 8 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002455991 SCV002739434 likely benign Cardiovascular phenotype 2020-06-24 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 RCV003900071 SCV004714934 likely benign HCN4-related condition 2022-01-31 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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