ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del) (rs730880049)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000157113 SCV001156267 likely benign Brugada syndrome 2018-02-09 criteria provided, single submitter research The ANK2 Gly3733del variant has been reported previously in 1 patient with suspected LQTS and was absent from 300 controls (Lieve KV, et al., 2004). The variant is also absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a patient with Brugada Syndrome (same case as SCV000206836), however the variant did not segregate to their affected sibling. In summary, based on the lack of segregation in our family we classify ANK2 Gly3733del as "likely benign".
Blueprint Genetics RCV000157113 SCV000206836 uncertain significance Brugada syndrome 2014-05-09 no assertion criteria provided clinical testing

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