ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) (rs145397619)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518213 SCV000615209 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing
Invitae RCV000524648 SCV000645283 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-03-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 2380 of the SETX protein (p.Arg2380Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs145397619, ExAC 0.001%). This variant has been reported in an individual affected with ataxia with oculomotor apraxia type 2, however a second variant was not identified in this individual (PMID: 19696032). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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