ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5426A>G (p.His1809Arg)

dbSNP: rs1555448900
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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 RCV000545580 SCV000642252 uncertain significance Hereditary spastic paraplegia 11 2017-05-24 criteria provided, single submitter clinical testing This variant 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: "Benign"; Align-GVGD: "Class C0"). 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 1809 of the SPG11 protein (p.His1809Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine.

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