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

gnomAD frequency: 0.00032  dbSNP: rs202243588

Total submissions: 7

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.
Invitae	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	2023-01-01	criteria provided, single submitter	clinical testing	SPTA1: BP4, BS2