ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5501A>G (p.His1834Arg)

gnomAD frequency: 0.00001  dbSNP: rs770822383
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517645 SCV000615197 uncertain significance not specified 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV001246159 SCV001419499 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-10-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SETX-related conditions. ClinVar contains an entry for this variant (Variation ID: 448334). This variant is present in population databases (rs770822383, ExAC 0.001%). This sequence change replaces histidine with arginine at codon 1834 of the SETX protein (p.His1834Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine.
Ambry Genetics RCV002350140 SCV002650178 uncertain significance Inborn genetic diseases 2022-07-16 criteria provided, single submitter clinical testing The p.H1834R variant (also known as c.5501A>G), located in coding exon 10 of the SETX gene, results from an A to G substitution at nucleotide position 5501. The histidine at codon 1834 is replaced by arginine, an amino acid with highly 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.
Genome-Nilou Lab RCV003233687 SCV003931325 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233688 SCV003931326 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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