ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.1801-17G>A

dbSNP: rs786205243
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris RCV000655898 SCV000777846 pathogenic Hereditary spherocytosis type 1 2018-02-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091597 SCV001247729 likely pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001091597 SCV001714273 likely pathogenic not provided 2021-09-07 criteria provided, single submitter clinical testing PS3, PM2
Revvity Omics, Revvity RCV000655898 SCV003828354 likely pathogenic Hereditary spherocytosis type 1 2023-12-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000655898 SCV004563382 likely pathogenic Hereditary spherocytosis type 1 2023-09-29 criteria provided, single submitter clinical testing The ANK1 c.1801-17G>A variant (rs786205243) has been reported in multiple individuals from families affected with hereditary spherocytosis (HS) (Duru 1992, Edelman 2007, Kang 2020). This variant is also reported in ClinVar (Variation ID: 513). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This is an intronic variant in a moderately conserved nucleotide, and computational analyses (Alamut Visual Plus v.1.5.1) predict that this variant does not alter splicing in a significant way. However, in-vitro functional assays suggest altered splicing by creating a novel cryptic acceptor splice site. Based on available information, this variant is considered to be likely pathogenic. REFERENCES Duru F et al. Homozygosity for dominant form of hereditary spherocytosis. Br J Haematol. 1992 Nov. PMID: 1486040 Edelman EJ et al. A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. Blood. 2007 Jun 15. PMID: 17327413 Kang LL et al. Gilbert's syndrome coexisting with hereditary spherocytosis might not be rare: Six case reports. World J Clin Cases. 2020 May 26. PMID: 32518793
OMIM RCV000000542 SCV000020691 pathogenic Spherocytosis, type 1, autosomal recessive 2007-06-15 no assertion criteria provided literature only

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