Submissions for variant NM_015046.7(SETX):c.866C>T (p.Ala289Val)

gnomAD frequency: 0.00001  dbSNP: rs1237541645

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001224042	SCV001396218	benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002447126	SCV002683348	uncertain significance	Inborn genetic diseases	2021-10-08	criteria provided, single submitter	clinical testing	The p.A289V variant (also known as c.866C>T), located in coding exon 6 of the SETX gene, results from a C to T substitution at nucleotide position 866. The alanine at codon 289 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Athena Diagnostics	RCV002473228	SCV002771085	uncertain significance	not provided	2021-09-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003234001	SCV003931568	uncertain significance	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003234002	SCV003931569	uncertain significance	Amyotrophic lateral sclerosis type 4	2023-02-08	criteria provided, single submitter	clinical testing