ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003490442 SCV004234205 uncertain significance Hereditary spherocytosis type 1 2023-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003738479 SCV004560349 uncertain significance not provided 2023-01-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ANK1 protein function. This variant has not been reported in the literature in individuals affected with ANK1-related conditions. This variant is present in population databases (rs373965109, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1498 of the ANK1 protein (p.Arg1498Trp).

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