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
Labcorp Genetics (formerly Invitae), Labcorp 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 2023-02-22 criteria provided, single submitter clinical testing The c.2830G>A (p.A944T) alteration is located in exon 8 (coding exon 8) of the HCN4 gene. This alteration results from a G to A substitution at nucleotide position 2830, causing the alanine (A) at amino acid position 944 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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