ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1448G>A (p.Arg483Gln)

gnomAD frequency: 0.00002  dbSNP: rs998387579
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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 RCV000538055 SCV000648435 likely benign Brugada syndrome 8 2024-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395428 SCV002701567 uncertain significance Cardiovascular phenotype 2022-10-02 criteria provided, single submitter clinical testing The p.R483Q variant (also known as c.1448G>A), located in coding exon 4 of the HCN4 gene, results from a G to A substitution at nucleotide position 1448. The arginine at codon 483 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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