ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1683C>A (p.Gly561=)

gnomAD frequency: 0.01030  dbSNP: rs62641690
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170928 SCV000223487 benign not specified 2014-06-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085024 SCV000288898 benign Brugada syndrome 8 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619178 SCV000735186 benign Cardiovascular phenotype 2015-08-07 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics RCV000711883 SCV000842294 benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115974 SCV001273991 benign Sick sinus syndrome 2, autosomal dominant 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000170928 SCV004804272 benign not specified 2024-01-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711883 SCV005295414 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000711883 SCV001978249 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000170928 SCV001979307 benign not specified no assertion criteria provided clinical testing

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