ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.536C>A (p.Pro179His)

gnomAD frequency: 0.00001  dbSNP: rs144167846
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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 RCV001973758 SCV002260787 uncertain significance Hereditary spastic paraplegia 11 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 179 of the SPG11 protein (p.Pro179His). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and histidine. This variant is present in population databases (rs144167846, ExAC 0.004%). 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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