ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4319A>T (p.Asp1440Val)

dbSNP: rs2140971917
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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 RCV002036738 SCV002317835 uncertain significance Hereditary spastic paraplegia 11 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 1440 of the SPG11 protein (p.Asp1440Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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