ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.2968C>T (p.Arg990Ter)

dbSNP: rs1554508985
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522780 SCV000618554 uncertain significance not provided 2017-10-02 criteria provided, single submitter clinical testing The R990X variant has been reported previously as a de novo variant in an individual with autism spectrum disorder, however, additional clinical information was not provided (Wang et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R990X variant is not observed in large population cohorts (Lek et al., 2016).
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002286746 SCV002577452 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2022-07-14 criteria provided, single submitter clinical testing PVS1_moderate, PM2

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