ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)

dbSNP: rs72558452
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692945 SCV000820796 pathogenic Ornithine carbamoyltransferase deficiency 2024-01-15 criteria provided, single submitter clinical testing This variant, c.817_819del, results in the deletion of 1 amino acid(s) of the OTC protein (p.Glu273del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs72558452, gnomAD 0.001%), including at least one homozygous and/or hemizygous individual. This variant has been observed in individual(s) with ornithine transcarbamylase deficiency (PMID: 8956045, 17334707, 25433810, 32420033, 34014557, 34014569). ClinVar contains an entry for this variant (Variation ID: 97337). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000692945 SCV001360757 likely pathogenic Ornithine carbamoyltransferase deficiency 2019-11-01 criteria provided, single submitter clinical testing Variant summary: OTC c.817_819delGAG (p.Glu273del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 5.5e-06 in 183136 control chromosomes (gnomAD). c.817_819delGAG has been reported in the literature in individuals affected with late-onset Ornithine Transcarbamylase Deficiency (Segues_1996, Arranz_2007, Martin-Hernandez_2014). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and cited the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV000692945 SCV004201313 likely pathogenic Ornithine carbamoyltransferase deficiency 2022-08-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000692945 SCV004357055 likely pathogenic Ornithine carbamoyltransferase deficiency 2023-09-06 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of one amino acid (glutamic acid) at codon 273 of the OTC protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in multiple male and female individuals affected with late-onset ornithine transcarbamylase deficiency (PMID: 8956045, 10799432, 17334707, 25433810, 34014557, 35145162). This variant has also been observed de novo in a 1.5 month-old female affected with ornithine transcarbamylase deficiency (PMID: 17334707). This variant has been identified in 1/183136 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic.
GenMed Metabolism Lab RCV000083584 SCV000115670 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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