ClinVar Miner

Submissions for variant NM_016327.3(UPB1):c.792C>A (p.Ser264Arg)

dbSNP: rs145766755
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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 RCV001305775 SCV001495122 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000778649 SCV005088801 likely pathogenic Deficiency of beta-ureidopropionase 2020-03-11 criteria provided, single submitter clinical testing This variant was previously reported in a compound heterozygous state in two unrelated individuals with beta-ureidopropionase deficiency [PMID: 22525402, 24526388]. Expression of the variant in E. coli yielded almost no detectable enzyme activity and structural analysis of the protein indicated that the variant abolishes the hydrogen bond to another amino acid, which may affect the shape of the entrance to the binding site [PMID: 22525402].

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