ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) (rs143433500)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000309988 SCV000383369 uncertain significance Spastic ataxia Charlevoix-Saguenay type 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517722 SCV000614945 likely benign not provided 2018-10-04 criteria provided, single submitter clinical testing
Invitae RCV000529780 SCV000629460 uncertain significance Spastic paraplegia 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 833 of the SACS protein (p.Glu833Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs143433500, ExAC 0.2%) but has not been reported in the literature in individuals with a SACS-related disease. ClinVar contains an entry for this variant (Variation ID: 311555). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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