ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.563C>T (p.Thr188Met)

gnomAD frequency: 0.00004  dbSNP: rs146346710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419791 SCV000512024 uncertain significance not provided 2016-06-28 criteria provided, single submitter clinical testing The T188M variant in the ANK1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T188M variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T188M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T188M as a variant of uncertain significance.
Revvity Omics, Revvity RCV003488587 SCV004234446 uncertain significance Hereditary spherocytosis type 1 2023-06-14 criteria provided, single submitter clinical testing

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