ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.479C>G (p.Ser160Cys)

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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 RCV002952985 SCV003272440 uncertain significance Hereditary spastic paraplegia 2022-11-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with USP8-related conditions. This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 160 of the USP8 protein (p.Ser160Cys). This variant is present in population databases (rs747842448, gnomAD 0.0009%). 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 tolerated. 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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