ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2294C>G (p.Ala765Gly)

gnomAD frequency: 0.00002  dbSNP: rs750833108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469737 SCV000541574 likely benign Brugada syndrome 8 2024-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022547 SCV004881100 uncertain significance Cardiovascular phenotype 2024-03-05 criteria provided, single submitter clinical testing The c.2294C>G (p.A765G) alteration is located in exon 8 (coding exon 8) of the HCN4 gene. This alteration results from a C to G substitution at nucleotide position 2294, causing the alanine (A) at amino acid position 765 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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