ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter)

dbSNP: rs1187228917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Haematogenetics, ICMR National Institute of Immunohaematology RCV001728105 SCV001976555 likely pathogenic Hereditary spherocytosis type 1 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002539780 SCV003307238 pathogenic not provided 2022-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1489*) in the ANK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANK1 are known to be pathogenic (PMID: 8640229). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1299407). This variant has not been reported in the literature in individuals affected with ANK1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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