ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys)

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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 RCV003141395 SCV003818559 uncertain significance Hereditary spherocytosis type 1 2022-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747270 SCV005365055 uncertain significance ANK1-related disorder 2024-03-04 no assertion criteria provided clinical testing The ANK1 c.4030C>T variant is predicted to result in the amino acid substitution p.Arg1344Cys. This variant was reported in an individual with spherocytosis (described as c.4153C>T, Xie et al. 2021. PubMed ID: 33620149). This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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