ClinVar Miner

Submissions for variant NM_000373.4(UMPS):c.1290A>G (p.Gln430=)

gnomAD frequency: 0.00002  dbSNP: rs17843847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973819 SCV001121601 benign Hereditary orotic aciduria, type 1 2023-06-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001146807 SCV001307566 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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