ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1570G>A (p.Gly524Arg)

dbSNP: rs1238362916
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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 RCV001064897 SCV001229831 uncertain significance Hereditary spastic paraplegia 11 2020-01-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 524 of the SPG11 protein (p.Gly524Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. In summary, the available evidence is currently insufficient to determine the role of this variant 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SPG11-related conditions. This variant is not present in population databases (ExAC no frequency).

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