ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.1590C>T (p.Ala530=)

gnomAD frequency: 0.00673  dbSNP: rs61758865
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000252683 SCV000313573 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319695 SCV000473881 benign Hereditary spherocytosis type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000970680 SCV001118273 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001165205 SCV001327380 uncertain significance Spherocytosis 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000319695 SCV001472410 benign Hereditary spherocytosis type 1 2023-06-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000970680 SCV004157520 benign not provided 2022-09-01 criteria provided, single submitter clinical testing ANK1: BP4, BP7, BS1, BS2

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