ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7117A>G (p.Thr2373Ala)

gnomAD frequency: 0.00012  dbSNP: rs184514058
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234216 SCV000286257 benign Long QT syndrome 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247727 SCV000320132 benign Cardiovascular phenotype 2015-09-04 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.
GeneDx RCV001705252 SCV000729074 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25351510, 23396983)
Genome-Nilou Lab RCV002253309 SCV002525062 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977651 SCV004786990 benign ANK2-related disorder 2020-03-03 no assertion criteria provided 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).

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