ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.6154C>T (p.Arg2052Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004762313 SCV005372300 likely pathogenic not provided 2024-04-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Reported in patients with autism spectrum disorder; however, additional clinical information was not provided (PMID: 36368308, 35982159); This variant is associated with the following publications: (PMID: 35982159, 36368308)

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