ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln)

dbSNP: rs368551668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554127 SCV000640474 uncertain significance Proteasome-associated autoinflammatory syndrome 1 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 272 of the PSMB8 protein (p.Arg272Gln). This variant is present in population databases (rs368551668, gnomAD 0.04%). 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: 465423). 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 glutamine 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000554127 SCV003920360 uncertain significance Proteasome-associated autoinflammatory syndrome 1 2022-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.04% (18/41414) (https://gnomad.broadinstitute.org/variant/6-32840975-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:465423). This variant amino acid Glutamine (Gln) is present in several species including multiple mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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