ClinVar Miner

Submissions for variant NM_024818.4(UBA5):c.907T>C (p.Cys303Arg) (rs1553770577)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000626019 SCV000746628 likely pathogenic Epileptic encephalopathy, early infantile, 44 2019-04-30 criteria provided, single submitter clinical testing This novel missense variant significantly impairs protein function.
Broad Institute Rare Disease Group, Broad Institute RCV000626019 SCV000786705 uncertain significance Epileptic encephalopathy, early infantile, 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.
Massachusetts General Hospital Undiagnosed Diseases Network,Massachusetts General Hospital RCV000626019 SCV001548168 pathogenic Epileptic encephalopathy, early infantile, 44 2021-03-14 criteria provided, single submitter research PS3, PM2, PM3, PP3, PP4

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