Submissions for variant NM_016327.3(UPB1):c.254C>A (p.Ala85Glu)

gnomAD frequency: 0.00401  dbSNP: rs34035085

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455167	SCV000540647	likely benign	not specified	2016-06-02	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1.5% in african population, also present in other populations in ExAC
Invitae	RCV000086541	SCV001108783	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000004365	SCV001311325	uncertain significance	Deficiency of beta-ureidopropionase	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000086541	SCV004154176	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	UPB1: BP4, BS1, BS2
OMIM	RCV000004365	SCV000024536	pathogenic	Deficiency of beta-ureidopropionase	2004-11-15	no assertion criteria provided	literature only
Diasio Lab, Mayo Clinic	RCV000086541	SCV000118745	not provided	not provided		no assertion provided	not provided