ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1074T>A (p.Ile358=)

dbSNP: rs1444977026
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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 RCV001907690 SCV002129225 uncertain significance Brugada syndrome 8 2021-09-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with HCN4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 358 of the HCN4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the HCN4 protein.

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