ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) (rs62641689)

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Total submissions: 11
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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 RCV000170931 SCV000050772 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000185511 SCV000223490 benign not specified 2016-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000185511 SCV000232682 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute RCV000204998 SCV000262544 likely pathogenic Sudden cardiac death 2016-01-05 criteria provided, single submitter research
Invitae RCV001084342 SCV000288901 benign Brugada syndrome 8 2020-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000185511 SCV000539274 likely benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.5% (358/65892) Europeans, 3 homozygotes
Ambry Genetics RCV000617204 SCV000735059 likely benign Cardiovascular phenotype 2018-10-18 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Athena Diagnostics Inc RCV000170931 SCV001144127 benign not provided 2019-04-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001120898 SCV001279418 benign Sick sinus syndrome 2, autosomal dominant 2018-03-29 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000185511 SCV001433479 benign not specified 2020-01-23 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000170931 SCV001741521 likely benign not provided no assertion criteria provided clinical testing

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