ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) (rs1420833435)

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Total submissions: 1
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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.

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