ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1750C>G (p.Leu584Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705240 SCV000834229 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2018-06-29 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 584 of the SETX protein (p.Leu584Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs764995848, ExAC 0.02%). This variant has been observed in cases of ataxia with oculomotor apraxia type 2 and familial amyotrophic lateral sclerosis, however the clinical significance of this variant in those cases was not determined (PMID: 18058631, 29170628). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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 create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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