ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.-106C>A (rs749748052)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757584 SCV000885873 uncertain significance not provided 2018-04-18 criteria provided, single submitter clinical testing The OTC c.-106C>A variant (rs749748052) occurs at a weakly conserved nucleotide located in the 5' untranslated region of the OTC gene. It has been described in individuals affected with late-onset OTC deficiency, but did not segregate with disease in one family (Jang 2018). It is reported in the 1000 Genome project with an overall allele frequency of 0.026% (1/3775 alleles). In vitro functional studies of the variant protein demonstrates reduced expression, but limited information is available regarding the experimental design of this single assay (Jang 2018). Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. REFERENCES Jang Y et al. Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene. Hum Mutat. 2018 Apr;39(4):527-536.
Caldovic Lab,Children's National Health System RCV000627032 SCV000612171 likely pathogenic Ornithine carbamoyltransferase deficiency 2017-12-12 no assertion criteria provided research The patient had clinical and biochemical symptoms of OTC deficiency, and no disease causing sequence variants in the OTC coding sequence and canonical splice sites. Functional testing in cultured cells indicates reduced expression of reporter gene.

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