ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.659G>A (p.Ser220Asn)

gnomAD frequency: 0.00057  dbSNP: rs140695550
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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 RCV002013869 SCV002299370 uncertain significance Hereditary spastic paraplegia 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 220 of the USP8 protein (p.Ser220Asn). This variant is present in population databases (rs140695550, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with USP8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1508275). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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