ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) (rs138379074)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538701 SCV000629478 uncertain significance Spastic paraplegia 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2214 of the SACS protein (p.Arg2214Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs138379074, ExAC 0.02%). This variant has not been reported in the literature in individuals with a SACS-related disease. 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 has uncertain impact on SACS function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000765122 SCV000896344 uncertain significance Spastic ataxia Charlevoix-Saguenay type 2018-10-31 criteria provided, single submitter clinical testing

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