ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.743A>G (p.Lys248Arg) (rs191744064)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000347896 SCV000342596 uncertain significance not provided 2016-06-10 criteria provided, single submitter clinical testing
Invitae RCV001065927 SCV001230917 uncertain significance Brugada syndrome 8 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 248 of the HCN4 protein (p.Lys248Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs191744064, ExAC 0.006%). This variant has not been reported in the literature in individuals with HCN4-related conditions. ClinVar contains an entry for this variant (Variation ID: 288482). 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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