ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)

gnomAD frequency: 0.00001  dbSNP: rs143133190
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060795 SCV001225506 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348441 SCV002648654 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The p.E1835K variant (also known as c.5503G>A), located in coding exon 10 of the SETX gene, results from a G to A substitution at nucleotide position 5503. The glutamic acid at codon 1835 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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.
Athena Diagnostics RCV002473187 SCV002771083 uncertain significance not provided 2021-08-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233942 SCV003931323 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233943 SCV003931324 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536120 SCV004710504 uncertain significance SETX-related disorder 2023-12-26 no assertion criteria provided clinical testing The SETX c.5503G>A variant is predicted to result in the amino acid substitution p.Glu1835Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0099% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135176062-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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