ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)

gnomAD frequency: 0.00029  dbSNP: rs148405740
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208430 SCV000263773 uncertain significance Brugada syndrome 2015-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000412995 SCV000490402 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing Identified in an individual with aborted sudden cardiac death (SCD) and an individual with an unspecified arrhythmia in the published literature (van Lint et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30847666, 26582918)
Invitae RCV001078702 SCV000545129 likely benign Long QT syndrome 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619380 SCV000737519 likely benign Cardiovascular phenotype 2020-11-12 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.
Fulgent Genetics, Fulgent Genetics RCV000764530 SCV000895613 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000412995 SCV004148762 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ANK2: BP4, BS1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252393 SCV001428148 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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