ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4780C>G (p.Pro1594Ala)

dbSNP: rs771186100
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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 RCV002025608 SCV002293632 uncertain significance Hereditary spastic paraplegia 11 2021-08-22 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This variant is present in population databases (rs771186100, ExAC 0.001%). This sequence change replaces proline with alanine at codon 1594 of the SPG11 protein (p.Pro1594Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine.

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