ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2621A>C (p.Glu874Ala)

dbSNP: rs2083709845
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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 RCV001212826 SCV001384424 uncertain significance Hereditary spastic paraplegia 11 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 874 of the SPG11 protein (p.Glu874Ala). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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