ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.388+8T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003810326 SCV004609955 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-11-29 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the SETX gene. It does not directly change the encoded amino acid sequence of the SETX protein. This variant is present in population databases (rs781259674, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SETX-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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