ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)

gnomAD frequency: 0.00004  dbSNP: rs369542231
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517014 SCV000615185 uncertain significance not specified 2016-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371981 SCV002624486 uncertain significance Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.3968G>A (p.R1323Q) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a G to A substitution at nucleotide position 3968, causing the arginine (R) at amino acid position 1323 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000143815 SCV003827520 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233112 SCV003931405 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233113 SCV003931406 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532620 SCV004116813 uncertain significance SETX-related disorder 2023-06-23 criteria provided, single submitter clinical testing The SETX c.3968G>A variant is predicted to result in the amino acid substitution p.Arg1323Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135203017-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143815 SCV000188708 non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Benign.

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