Submissions for variant NM_003126.4(SPTA1):c.6531-12C>T

gnomAD frequency: 0.25447  dbSNP: rs28525570

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249337	SCV000309436	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000388225	SCV000349210	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000296410	SCV000349211	likely benign	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000344309	SCV000349212	likely benign	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001610635	SCV001158746	likely pathogenic	not provided	2021-11-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001610635	SCV001833401	benign	not provided	2021-05-24	criteria provided, single submitter	clinical testing	Commonly referred to as the AlphaLELY allele, this variant is a low expression allele that results in partial skipping of exon 46 and expression of hereditary elliptocytosis when in trans with a pathogenic SPTA1 variant (Wilmotte et al., 1999); This variant has been reported multiple times in association with hereditary elliptocytosis when present in trans with a pathogenic SPTA1 variant (Russo et al., 2018; Aggarwal et al., 2020; Suzuki et al., 2021) This variant is associated with the following publications: (PMID: 10192450, 29396846, 31602632, 32287101, 29484404, 30298500, 32581362)
CeGaT Center for Human Genetics Tuebingen	RCV001610635	SCV002562948	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	SPTA1: BS1, BS2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000249337	SCV002760379	uncertain significance	not specified	2024-07-31	criteria provided, single submitter	clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge	RCV001003793	SCV001162237	likely pathogenic	Hemolytic anemia		no assertion criteria provided	research