ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1915G>A (p.Val639Met)

gnomAD frequency: 0.00003  dbSNP: rs563194186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179452 SCV000231703 uncertain significance not provided 2014-11-30 criteria provided, single submitter clinical testing
Invitae RCV001346820 SCV001541052 likely benign Brugada syndrome 8 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408779 SCV002720600 uncertain significance Cardiovascular phenotype 2022-03-09 criteria provided, single submitter clinical testing The p.V639M variant (also known as c.1915G>A), located in coding exon 6 of the HCN4 gene, results from a G to A substitution at nucleotide position 1915. The valine at codon 639 is replaced by methionine, an amino acid with highly similar properties. This variant has been detected in individuals from a thoracic aortic aneurysm and dissection cohort (Hanania HL et al. Circ Genom Precis Med, 2019 12;12:e002626). This amino acid position is highly 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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