ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.9_10delinsCG (p.Leu4Val)

dbSNP: rs2127380594
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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 RCV003772509 SCV002120058 uncertain significance Proteosome-associated autoinflammatory syndrome 2021-06-10 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 4 of the PSMB8 protein (p.Leu4Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with PSMB8-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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