ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6692T>C (p.Ile2231Thr)

dbSNP: rs1363230897
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545095 SCV000642275 uncertain significance Hereditary spastic paraplegia 11 2019-12-05 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. 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"). This variant is present in population databases (gnomAD, 0.0009%) but has not been reported in the literature in individuals with an SPG11-related disease. This sequence change replaces isoleucine with threonine at codon 2231 of the SPG11 protein (p.Ile2231Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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