ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7995G>T (p.Glu2665Asp)

gnomAD frequency: 0.00001  dbSNP: rs1085307585
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489547 SCV000576770 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing The E2665D variant in the SETX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E2665D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E2665D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E2665D as a variant of uncertain significance.

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