ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.1603-3C>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Dr. Eberhard & Partner Dortmund RCV004720176 SCV005205733 uncertain significance Hereditary spherocytosis type 1 2024-09-11 criteria provided, single submitter clinical testing According to our research, the intronic variant c.1603-3C>A in ANK1 has not yet been described in the literature and is not found in control groups of different ethnicities. Some of the computer-based splicing analyses performed indicated an impairment of the constitutional splice acceptor site, so abnormal splicing cannot be excluded. A conclusive evaluation of the alteration c.1603-3C>A in ANK1 with regard to HS is not possible based on the current data situation, so that we currently consider the alteration c.1603-3C>A to be a variant with uncertain siginificance.

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