ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.722G>A (p.Gly241Asp)

gnomAD frequency: 0.00001  dbSNP: rs1461226043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001928943 SCV002200269 benign Ornithine carbamoyltransferase deficiency 2024-01-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001928943 SCV004824440 uncertain significance Ornithine carbamoyltransferase deficiency 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces glycine with aspartic acid at codon 241 of the OTC protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 1/183224 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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