ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4877T>G (p.Phe1626Cys)

gnomAD frequency: 0.00001  dbSNP: rs553905886
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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 RCV001918532 SCV002180021 uncertain significance Hereditary spastic paraplegia 11 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1626 of the SPG11 protein (p.Phe1626Cys). This variant is present in population databases (rs553905886, gnomAD 0.01%). 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: 1407603). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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