ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5104G>A (p.Val1702Ile)

gnomAD frequency: 0.00005  dbSNP: rs61745659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697571 SCV000826191 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334333 SCV002641948 uncertain significance Inborn genetic diseases 2020-06-23 criteria provided, single submitter clinical testing The p.V1702I variant (also known as c.5104G>A), located in coding exon 8 of the SETX gene, results from a G to A substitution at nucleotide position 5104. The valine at codon 1702 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly 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 autosomal dominant juvenile amyotrophic lateral sclerosis 4 (ALS4); however, its contribution to the development of autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain.

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