ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1028C>T (p.Ser343Leu)

dbSNP: rs2084792703
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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 RCV001879517 SCV002144481 uncertain significance Hereditary spastic paraplegia 11 2021-08-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This sequence change replaces serine with leucine at codon 343 of the SPG11 protein (p.Ser343Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.

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