ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5671G>A (p.Val1891Met)

gnomAD frequency: 0.00001  dbSNP: rs1483911645
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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 RCV001050726 SCV001214847 uncertain significance Hereditary spastic paraplegia 11 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1891 of the SPG11 protein (p.Val1891Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. 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 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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