ClinVar Miner

Submissions for variant NM_016327.3(UPB1):c.209G>C (p.Arg70Pro)

gnomAD frequency: 0.00013  dbSNP: rs121908066
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000004366 SCV000914981 uncertain significance Deficiency of beta-ureidopropionase 2018-11-26 criteria provided, single submitter clinical testing The UPB1 c.209G>C (p.Arg70Pro) missense variant has been reported in a compound heterozygous state in one individual with multiple congenital anomalies and beta-ureidopropionase deficiency (Yaplito-Lee et al. 2008). Control data are unavailable for this variant, which is reported at a frequency of 0.000349 in the European American population of the Exome Sequencing Project. Yaplito-Lee et al. (2008) performed functional analysis of the p.Arg70Pro variant by expressing the variant in E. coli and found that no beta-ureidopropionase activity was detected. Based on the evidence, the p.Arg70Pro variant is classified as a variant of unknown significance but suspicious for pathogenicity for beta-ureidopropionase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Baylor Genetics RCV000004366 SCV001527898 uncertain significance Deficiency of beta-ureidopropionase 2018-03-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000004366 SCV000024537 pathogenic Deficiency of beta-ureidopropionase 2008-02-01 no assertion criteria provided literature only

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