ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser)

gnomAD frequency: 0.00007  dbSNP: rs372021275
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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 RCV001644614 SCV000615172 uncertain significance not provided 2020-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438248 SCV002754299 uncertain significance Inborn genetic diseases 2020-01-06 criteria provided, single submitter clinical testing The p.T1008S variant (also known as c.3023C>G), located in coding exon 8 of the SETX gene, results from a C to G substitution at nucleotide position 3023. The threonine at codon 1008 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003233675 SCV003931478 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233676 SCV003931479 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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