ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6176G>T (p.Arg2059Leu)

dbSNP: rs757619567
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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 RCV000537894 SCV000642263 uncertain significance Hereditary spastic paraplegia 11 2017-05-27 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on SPG11 function. The available evidence is currently insufficient to determine its role in disease. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with an SPG11-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 2059 of the SPG11 protein (p.Arg2059Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine.

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