ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala)

gnomAD frequency: 0.00178  dbSNP: rs79577190
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711456 SCV000223214 likely benign not provided 2021-06-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27930701)
Invitae RCV000466690 SCV000557216 benign Long QT syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617496 SCV000737429 likely benign Cardiovascular phenotype 2018-09-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina RCV001145849 SCV001306549 likely benign Cardiac arrhythmia, ankyrin-B-related 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab RCV001145849 SCV002525096 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711456 SCV004148766 benign not provided 2023-04-01 criteria provided, single submitter clinical testing ANK2: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center RCV000170661 SCV001925038 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000170661 SCV001932691 benign not specified no assertion criteria provided clinical testing

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