ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.2296-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120304 SCV003800580 likely pathogenic Hereditary spherocytosis type 1 2022-03-04 criteria provided, single submitter clinical testing The ANK1 c.2296-2A>C variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant disrupts the canonical splice acceptor site of intron 20, which is likely to negatively impact gene function. Based on available information, this variant is considered to be likely pathogenic.

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