ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2830G>A (p.Ala944Thr)

gnomAD frequency: 0.00003  dbSNP: rs777648103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647269 SCV000769058 likely benign Brugada syndrome 8 2023-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001562046 SCV001784753 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440333 SCV002746747 uncertain significance Cardiovascular phenotype 2023-01-22 criteria provided, single submitter clinical testing The p.A944T variant (also known as c.2830G>A), located in coding exon 8 of the HCN4 gene, results from a G to A substitution at nucleotide position 2830. The alanine at codon 944 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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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