ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1190A>C (p.Tyr397Ser)

dbSNP: rs2043016094
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042796 SCV001206500 uncertain significance Brugada syndrome 8 2019-01-26 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 variant has not been reported in the literature in individuals with HCN4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with serine at codon 397 of the HCN4 protein (p.Tyr397Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine.

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