ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)

gnomAD frequency: 0.00032  dbSNP: rs202243588
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Total submissions: 7
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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 RCV000655917 SCV000777866 uncertain significance Familial hemolytic anemia 2018-02-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001099973 SCV001256467 likely benign Elliptocytosis 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001099974 SCV001256468 uncertain significance Pyropoikilocytosis, hereditary 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001099975 SCV001256469 uncertain significance Hereditary spherocytosis type 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002534241 SCV003289579 benign not provided 2023-11-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002534241 SCV003799556 uncertain significance not provided 2022-05-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002534241 SCV004125048 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing SPTA1: BP4, BS2

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