ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5834C>T (p.Ala1945Val)

gnomAD frequency: 0.00001  dbSNP: rs1009296937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764938 SCV001989472 uncertain significance not provided 2020-02-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002359231 SCV002648327 uncertain significance Inborn genetic diseases 2020-11-04 criteria provided, single submitter clinical testing The p.A1945V variant (also known as c.5834C>T), located in coding exon 12 of the SETX gene, results from a C to T substitution at nucleotide position 5834. The alanine at codon 1945 is replaced by valine, an amino acid with similar properties. A different alteration at this position (p.A1945P) was reported along with a frameshift mutation in a patient with early onset progressive ataxia (Fogel BL et al. Neurology, 2006 Dec;67:2083-4). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the supporting evidence, this variant is unlikely to be causative of juvenile amyotrophic lateral sclerosis; however, its contribution to the development of spinocerebellar ataxia with axonal neuropathy is uncertain.
Genome-Nilou Lab RCV003234099 SCV003931294 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234100 SCV003931295 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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