ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.3112G>T (p.Glu1038Ter)

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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 RCV004723684 SCV005329320 likely pathogenic Hereditary spherocytosis type 1 2023-05-20 criteria provided, single submitter clinical testing The observed stop gained variant c.3112G>T(p.Glu1038Ter) in ANK1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3112G>T variant is absent in gnomAD Exomes. Computational evidence (MutationTaster - Disease causing) predicts damaging effect on protein structure and function for this variant. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing (Huang TL, et al., 2019). For these reasons, this variant has been classified as Likely Pathogenic.

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