ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2607_2609del (p.Lys870del)

gnomAD frequency: 0.00001  dbSNP: rs781159054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851005 SCV002185576 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-11-02 criteria provided, single submitter clinical testing This variant, c.2607_2609del, results in the deletion of 1 amino acid(s) of the SETX protein (p.Lys870del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781159054, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SETX-related conditions. ClinVar contains an entry for this variant (Variation ID: 373903). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV003322767 SCV004028211 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414828 SCV000492529 uncertain significance Dystonic disorder; Mental deterioration 2016-08-22 no assertion criteria provided clinical testing

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