ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7943G>A (p.Gly2648Asp)

gnomAD frequency: 0.00001  dbSNP: rs563254150
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527619 SCV000627671 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001696938 SCV000732807 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001145605 SCV001306294 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 RCV001145605 SCV002525069 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420359 SCV002677427 benign Cardiovascular phenotype 2019-10-03 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.

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