ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys) (rs201319883)

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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 RCV000171646 SCV000050676 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000822299 SCV000963096 uncertain significance Brugada syndrome 8 2020-07-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 614 of the HCN4 protein (p.Glu614Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs201319883, ExAC 0.01%). This variant has been observed in an individual with combined generalized-focal epilepsy (PMID: 30986657). ClinVar contains an entry for this variant (Variation ID: 191454). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Not Available; Align-GVGD: Class C5). 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. 5
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852466 SCV000995160 uncertain significance Ventricular tachycardia 2018-09-15 criteria provided, single submitter clinical testing

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