ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7738G>A (p.Val2580Ile)

gnomAD frequency: 0.00013  dbSNP: rs370366576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518348 SCV000615215 uncertain significance not specified 2017-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404331 SCV002669342 uncertain significance Inborn genetic diseases 2022-02-28 criteria provided, single submitter clinical testing The p.V2580I variant (also known as c.7738G>A), located in coding exon 24 of the SETX gene, results from a G to A substitution at nucleotide position 7738. The valine at codon 2580 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 amyotrophic lateral sclerosis 4 (ALS4); however, its contribution to the development of spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain.
Genome-Nilou Lab RCV003233696 SCV003931611 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233697 SCV003931622 likely benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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