ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3317del (p.Pro1106fs)

dbSNP: rs2151213907
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002041658 SCV002107711 uncertain significance Brugada syndrome 8 2021-02-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1106Argfs*75) in the HCN4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 98 amino acid(s) of the HCN4 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with HCN4-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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