ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.623G>T (p.Ser208Ile) (rs911764681)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674847 SCV000800248 uncertain significance Spastic ataxia Charlevoix-Saguenay type 2018-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000522663 SCV000618957 likely pathogenic not provided 2017-07-14 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the SACS gene. The S208I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S208I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S208I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S208I as a likely pathogenic variant.

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