ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser)

dbSNP: rs1131691664
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493370 SCV000582593 uncertain significance not provided 2017-05-16 criteria provided, single submitter clinical testing The Y2015S variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Y2015S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y2015S variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Y2015S as a variant of uncertain significance.

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