Submissions for variant NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)

gnomAD frequency: 0.00073  dbSNP: rs141589525

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000537182	SCV000645295	likely benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-12-24	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV001662568	SCV001880525	likely benign	not specified	2021-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002413562	SCV002680854	uncertain significance	Inborn genetic diseases	2019-12-23	criteria provided, single submitter	clinical testing	The p.D2624Y variant (also known as c.7870G>T), located in coding exon 24 of the SETX gene, results from a G to T substitution at nucleotide position 7870. The aspartic acid at codon 2624 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is not well 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 juvenile amyotrophic lateral sclerosis 4; however, its contribution to the development of spinocerebellar ataxia with axonal neuropathy 2 is uncertain.
GeneDx	RCV002461309	SCV002757533	uncertain significance	not provided	2022-11-23	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic	RCV002461309	SCV004225119	uncertain significance	not provided	2023-06-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925662	SCV004742861	likely benign	SETX-related condition	2022-08-25	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).