ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) (rs374057859)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765209 SCV000896445 uncertain significance Amyotrophic lateral sclerosis type 5; Spastic paraplegia 11, autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2X 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000544170 SCV000642272 uncertain significance Spastic paraplegia 11, autosomal recessive 2018-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2209 of the SPG11 protein (p.Arg2209Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs374057859, ExAC 0.05%) but has not been reported in the literature in individuals with an SPG11-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: "Probably Damaging"; 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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