ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5537G>A (p.Arg1846His)

gnomAD frequency: 0.00006  dbSNP: rs373571937
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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 RCV000518525 SCV000615198 uncertain significance not provided 2018-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350141 SCV002649401 uncertain significance Inborn genetic diseases 2020-12-02 criteria provided, single submitter clinical testing The p.R1846H variant (also known as c.5537G>A), located in coding exon 10 of the SETX gene, results from a G to A substitution at nucleotide position 5537. The arginine at codon 1846 is replaced by histidine, an amino acid with highly similar properties. 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 autosomal dominant juvenile amyotrophic lateral sclerosis 4; however, its contribution to the development of autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 is uncertain. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003233689 SCV003931316 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233690 SCV003931317 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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