ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.3068G>A (p.Arg1023His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004785808 SCV005400862 uncertain significance Hereditary spherocytosis type 1 2023-06-22 criteria provided, single submitter clinical testing The observed missense variant c.3068G>A(p.Arg1023His) in the ANK1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.002% in the gnomAD Exomes. The amino acid Arg at position 1023 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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