ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1508G>A (p.Ser503Asn) (rs1085307770)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490032 SCV000577265 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing The S503N variant in the SETX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S503N variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S503N variant is a conservative amino acid substitution, which 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 S503N as a variant of uncertain significance

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