ClinVar Miner

Submissions for variant NM_000373.4(UMPS):c.495G>A (p.Ala165=)

gnomAD frequency: 0.00119  dbSNP: rs75971351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000966317 SCV001113623 benign Hereditary orotic aciduria, type 1 2022-06-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001150932 SCV001312027 uncertain significance Orotic aciduria 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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