ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3461G>A (p.Arg1154Gln)

gnomAD frequency: 0.00006  dbSNP: rs145862018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171642 SCV000055196 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000799609 SCV000939280 likely benign Brugada syndrome 8 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000171642 SCV002003010 uncertain significance not provided 2020-01-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 191450; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002460051 SCV002618023 uncertain significance Cardiovascular phenotype 2022-12-06 criteria provided, single submitter clinical testing The p.R1154Q variant (also known as c.3461G>A), located in coding exon 8 of the HCN4 gene, results from a G to A substitution at nucleotide position 3461. The arginine at codon 1154 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, glutamine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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