Submissions for variant NM_015046.7(SETX):c.5537G>A (p.Arg1846His)

gnomAD frequency: 0.00006  dbSNP: rs373571937

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518525	SCV000615198	uncertain significance	not provided	2018-10-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350141	SCV002649401	uncertain significance	Inborn genetic diseases	2020-12-02	criteria provided, single submitter	clinical testing	The p.R1846H variant (also known as c.5537G>A), located in coding exon 10 of the SETX gene, results from a G to A substitution at nucleotide position 5537. The arginine at codon 1846 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the supporting evidence, this variant is unlikely to be causative of autosomal dominant juvenile amyotrophic lateral sclerosis 4; however, its contribution to the development of autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 is uncertain. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab	RCV003233689	SCV003931316	uncertain significance	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233690	SCV003931317	uncertain significance	Amyotrophic lateral sclerosis type 4	2023-02-08	criteria provided, single submitter	clinical testing