ClinVar Miner

Submissions for variant NM_024818.6(UBA5):c.907T>C (p.Cys303Arg)

dbSNP: rs1553770577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000626019 SCV000746628 pathogenic Developmental and epileptic encephalopathy, 44 2021-03-14 criteria provided, single submitter clinical testing Functional analyses demonstrated that the p.Cys303Arg variant results in a significant decrease in protein function. See PMID: 33811063. ACMG criteria applied: PS3, PM2, PM3, PP3, PP4.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000626019 SCV000786705 uncertain significance Developmental and epileptic encephalopathy, 44 criteria provided, single submitter research The heterozygous p.Cys303Arg variant was identified in the compound heterozygous state by our study in one individual with Epileptic Encephalopathy. The p.Cys303Arg variant has not been reported in the literature and was absent from large population studies. The cysteine (cys) at position 303 is highly conserved in mammals and evolutionary distant species, raising the possibility/supporting that a change at this position may not be tolerated. Computational tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Cys303Arg variant is uncertain.

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