ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1970A>G (p.Tyr657Cys)

dbSNP: rs2042889743
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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 RCV001057145 SCV001221622 uncertain significance Brugada syndrome 8 2019-02-08 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. This sequence change replaces tyrosine with cysteine at codon 657 of the HCN4 protein (p.Tyr657Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HCN4-related conditions.

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