ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg)

gnomAD frequency: 0.00001  dbSNP: rs1420833435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001201 SCV001158361 uncertain significance not specified 2019-04-26 criteria provided, single submitter clinical testing The c.7103C>G; p.Pro2368Arg variant has been reported in the medical literature in association with oculomotor apraxia type 2 (AOA2) (Arning 2013). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant is moderately conserved in the RNA helicase domain of SETX and functional studies indicate it does not cause mislocalization or aggregation of the protein in patient cells (Chen 2006); however computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Pro2368Arg variant is uncertain at this time.
Ambry Genetics RCV002363533 SCV002662625 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The p.P2368R variant (also known as c.7103C>G), located in coding exon 22 of the SETX gene, results from a C to G substitution at nucleotide position 7103. The proline at codon 2368 is replaced by arginine, an amino acid with dissimilar properties. This alteration was detected in the homozygous state in an individual with ataxia-oculomotor apraxia 2 (Chen YZ et al. Neurobiol Dis, 2006 Jul;23:97-108). In vitro experimental studies show that this alteration does not cause localization defects in patient cells (Chen YZ et al. Neurobiol Dis, 2006 Jul;23:97-108). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003233921 SCV003931921 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233922 SCV003931933 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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