ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.524C>T (p.Ala175Val)

dbSNP: rs1464305426
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704738 SCV000833698 uncertain significance Brugada syndrome 8 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 175 of the HCN4 protein (p.Ala175Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with HCN4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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