ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.8658A>G (p.Leu2886=)

gnomAD frequency: 0.00133  dbSNP: rs149433267
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242963 SCV000319112 likely benign Cardiovascular phenotype 2015-08-07 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV001705389 SCV000525976 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000464701 SCV000557193 benign Long QT syndrome 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253336 SCV002525077 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947814 SCV004760664 benign ANK2-related disorder 2019-11-19 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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