ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002445758 SCV002611525 uncertain significance Inborn genetic diseases 2020-12-31 criteria provided, single submitter clinical testing The p.Q1094R variant (also known as c.3281A>G), located in coding exon 8 of the SETX gene, results from an A to G substitution at nucleotide position 3281. The glutamine at codon 1094 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775577 SCV004581468 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-10-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534049 SCV004710440 uncertain significance SETX-related disorder 2023-11-28 no assertion criteria provided clinical testing The SETX c.3281A>G variant is predicted to result in the amino acid substitution p.Gln1094Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.064% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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