ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)

gnomAD frequency: 0.00001  dbSNP: rs781185115
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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 RCV000992939 SCV001145552 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327219 SCV002632012 uncertain significance Inborn genetic diseases 2021-05-28 criteria provided, single submitter clinical testing The p.R1473C variant (also known as c.4417C>T), located in coding exon 8 of the SETX gene, results from a C to T substitution at nucleotide position 4417. The arginine at codon 1473 is replaced by cysteine, an amino acid with highly dissimilar 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.
Genome-Nilou Lab RCV003233895 SCV003931376 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233896 SCV003931379 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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