ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2266G>A (p.Ala756Thr)

gnomAD frequency: 0.00004  dbSNP: rs143339036
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001404995 SCV001606905 likely benign Brugada syndrome 8 2023-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442786 SCV002733433 uncertain significance Cardiovascular phenotype 2022-02-10 criteria provided, single submitter clinical testing The p.A756T variant (also known as c.2266G>A), located in coding exon 8 of the HCN4 gene, results from a G to A substitution at nucleotide position 2266. The alanine at codon 756 is replaced by threonine, an amino acid with similar properties. This variant was reported in an individual with arrhythmogenic right ventricular cardiomyopathy (ARVC); however, clinical details were limited (Kolokotronis K et al. J Clin Med, 2020 Jul;9:[Epub ahead of print]). This amino acid position is well 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.
GeneDx RCV003324803 SCV004030990 uncertain significance not provided 2023-08-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32659924)
Institute of Human Genetics, University of Wuerzburg RCV001842016 SCV000992453 uncertain significance Cardiac arrhythmia no assertion criteria provided clinical testing

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