ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.7040G>C (p.Trp2347Ser)

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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 RCV002635001 SCV002961049 uncertain significance Hereditary spastic paraplegia 11 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 2347 of the SPG11 protein (p.Trp2347Ser). This variant is not present in population databases (gnomAD 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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