ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.3280A>G (p.Thr1094Ala)

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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 RCV004577268 SCV005061211 uncertain significance Hereditary spherocytosis type 1 criteria provided, single submitter clinical testing The observed missense variant c.3280A>G (p.Thr1094Ala) in ANK1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr1094Ala variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. The amino acid change p.Thr1094Ala in ANK1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Thr at position 1094 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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