ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.89T>G (p.Leu30Trp)

gnomAD frequency: 0.00003  dbSNP: rs750684185
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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 RCV001218822 SCV001390726 uncertain significance Hereditary spastic paraplegia 11 2021-11-01 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 30 of the SPG11 protein (p.Leu30Trp). This variant is present in population databases (rs750684185, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. ClinVar contains an entry for this variant (Variation ID: 947698). 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 C0"). 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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