ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg)

dbSNP: rs1202502842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003770878 SCV001531312 uncertain significance Proteosome-associated autoinflammatory syndrome 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 209 of the PSMB8 protein (p.Gly209Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PSMB8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1034913). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PSMB8 protein function with a positive predictive value of 80%. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001337702 SCV002512689 uncertain significance Proteasome-associated autoinflammatory syndrome 1 2021-03-26 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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