ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs) (rs786205259)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171563 SCV000050608 uncertain significance Sinus node disease 2018-04-05 criteria provided, single submitter research
Invitae RCV000647239 SCV000769028 uncertain significance Brugada syndrome 8 2020-10-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the HCN4 gene (p.Phe1168Glyfs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 36 amino acids of the HCN4 protein. This variant is present in population databases (rs771725926, ExAC 0.05%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with HCN4-related disease. ClinVar contains an entry for this variant (Variation ID: 191377). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530062 SCV001744623 uncertain significance not provided no assertion criteria provided clinical testing

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