ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) (rs186436335)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473308 SCV000552975 uncertain significance Spastic paraplegia 2016-07-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 2749 of the SACS protein (p.Ile2749Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs186436335, ExAC 0.05%) but 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It is not expected to cause disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594324 SCV000702728 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765121 SCV000896343 uncertain significance Spastic ataxia Charlevoix-Saguenay type 2018-10-31 criteria provided, single submitter clinical testing

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