ClinVar Miner

Submissions for variant NM_000373.4(UMPS):c.88A>G (p.Ser30Gly)

gnomAD frequency: 0.00350  dbSNP: rs17843776
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250276 SCV000303895 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360796 SCV000440391 likely benign Orotic aciduria 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000529613 SCV000631375 benign Hereditary orotic aciduria, type 1 2024-01-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000360796 SCV004562795 uncertain significance Orotic aciduria 2023-11-11 criteria provided, single submitter clinical testing

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