ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.736C>G (p.Leu246Val)

gnomAD frequency: 0.00001  dbSNP: rs1168053730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002120626 SCV002433152 likely benign Ornithine carbamoyltransferase deficiency 2023-12-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002120626 SCV004828820 uncertain significance Ornithine carbamoyltransferase deficiency 2023-09-17 criteria provided, single submitter clinical testing This missense variant replaces leucine with valine at codon 246 of the OTC protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with OTC-related disorders in the literature. This variant has been identified in 2/183225 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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