ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.5051C>T (p.Thr1684Ile)

gnomAD frequency: 0.00006  dbSNP: rs376601712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755814 SCV000883398 uncertain significance Hereditary spherocytosis type 1 2020-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546594 SCV004251161 uncertain significance not provided 2022-12-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs376601712, gnomAD 0.02%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 617977). This variant has not been reported in the literature in individuals affected with ANK1-related conditions. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1684 of the ANK1 protein (p.Thr1684Ile).

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