ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7525C>T (p.Leu2509=)

gnomAD frequency: 0.00014  dbSNP: rs199591964
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094921 SCV000447198 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001706560 SCV000722404 likely benign not provided 2020-10-28 criteria provided, single submitter clinical testing
Invitae RCV000357947 SCV001001035 likely benign Long QT syndrome 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392909 SCV002672668 likely benign Cardiovascular phenotype 2017-12-15 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.
PreventionGenetics, part of Exact Sciences RCV003912470 SCV004735226 likely benign ANK2-related condition 2021-04-07 criteria provided, single submitter 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).

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