ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3447C>T (p.His1149=)

gnomAD frequency: 0.00001  dbSNP: rs773681962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001472730 SCV001676867 likely benign Brugada syndrome 8 2024-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456821 SCV002614696 likely benign Cardiovascular phenotype 2021-06-10 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.

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