ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2731C>T (p.His911Tyr)

dbSNP: rs2549068653
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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 RCV003614257 SCV004373211 uncertain significance Brugada syndrome 8 2023-07-03 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 911 of the HCN4 protein (p.His911Tyr). This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HCN4 protein function. This variant has not been reported in the literature in individuals affected with HCN4-related conditions.

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