Submissions for variant NM_001148.6(ANK2):c.10371G>A (p.Thr3457=)

gnomAD frequency: 0.00203  dbSNP: rs142908806

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000225793	SCV000286226	benign	Long QT syndrome	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625130	SCV000447225	likely benign	Cardiac arrhythmia, ankyrin-B-related	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000423587	SCV000516621	benign	not specified	2016-10-17	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.
Ambry Genetics	RCV000621086	SCV000735817	likely benign	Cardiovascular phenotype	2015-07-21	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625130	SCV000743830	benign	Cardiac arrhythmia, ankyrin-B-related	2017-04-04	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625130	SCV000745235	likely benign	Cardiac arrhythmia, ankyrin-B-related	2017-06-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625130	SCV002525087	benign	Cardiac arrhythmia, ankyrin-B-related	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003221876	SCV003916910	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	ANK2: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003967627	SCV004788030	benign	ANK2-related condition	2019-05-30	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000423587	SCV001917910	benign	not specified		no assertion criteria provided	clinical testing