Submissions for variant NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002398270	SCV002705626	uncertain significance	Inborn genetic diseases	2020-10-20	criteria provided, single submitter	clinical testing	The p.S528F variant (also known as c.1583C>T), located in coding exon 8 of the SETX gene, results from a C to T substitution at nucleotide position 1583. The serine at codon 528 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003096972	SCV003252756	benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2022-12-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003234198	SCV003931541	uncertain significance	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003234199	SCV003931542	uncertain significance	Amyotrophic lateral sclerosis type 4	2023-02-08	criteria provided, single submitter	clinical testing