ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.7244C>A (p.Ala2415Glu)

dbSNP: rs1060501177
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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 RCV000477136 SCV000545207 uncertain significance Hereditary spastic paraplegia 11 2016-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 2415 of the SPG11 protein (p.Ala2415Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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