ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.669+3A>G

gnomAD frequency: 0.00072  dbSNP: rs370475820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170647 SCV000223199 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ANK2 gene. The c.669+3 A>G variant has not been published as pathogenic or reported as a benign to our knowledge. This variant was observed in 48/24030 (0.2%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The c.669+3 A>G variant has been seen both independently, and in conjunction with additional cardiogenetic variants, in other individuals referred for arrhythmia genetic testing at GeneDx, although no informative segregation data are available. Moreover, no other splice site variants in the ANK2 gene have been reported in the Human Gene Mutation Database in association with LQTS (Stenson et al., 2014). Nevertheless, the c.669+3 A>G variant is predicted to destroy or significantly reduce the natural splice donor site in intron 6 and may cause abnormal gene splicing; however, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.
Invitae RCV001084450 SCV000254721 likely benign Long QT syndrome 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620104 SCV000735401 likely benign Cardiovascular phenotype 2018-11-07 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.

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