Submissions for variant NM_001148.6(ANK2):c.8768A>G (p.Gln2923Arg)

gnomAD frequency: 0.00001  dbSNP: rs551454026

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000631775	SCV000752865	benign	Long QT syndrome	2024-12-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001148490	SCV001309389	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	RCV001148490	SCV002525078	benign	Cardiac arrhythmia, ankyrin-B-related	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377358	SCV002685886	benign	Cardiovascular phenotype	2022-02-20	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.
Fulgent Genetics, Fulgent Genetics	RCV001148490	SCV002795495	likely benign	Cardiac arrhythmia, ankyrin-B-related	2021-09-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003437339	SCV004148755	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	ANK2: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV004745513	SCV005348814	likely benign	ANK2-related disorder	2024-04-09	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).