ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) (rs1085307569)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489327 SCV000576738 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing The A3096T variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A3096T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A3096T variant is a non-conservative amino acid substitution, which occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A3096T as a variant of uncertain significance.

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