ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.172C>T (p.Pro58Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248102 SCV001421567 uncertain significance Brugada syndrome 8 2019-10-26 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 58 of the HCN4 protein (p.Pro58Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. 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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