ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.2108C>A (p.Pro703His)

gnomAD frequency: 0.00001  dbSNP: rs766783893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001883586 SCV002145676 uncertain significance Hereditary spastic paraplegia 2023-06-14 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1379085). This variant has not been reported in the literature in individuals affected with USP8-related conditions. This variant is present in population databases (rs766783893, gnomAD 0.009%). This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 703 of the USP8 protein (p.Pro703His).
Fulgent Genetics, Fulgent Genetics RCV002490098 SCV002780738 uncertain significance Pituitary dependent hypercortisolism 2022-04-20 criteria provided, single submitter clinical testing

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