ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.67C>T (p.Arg23Ter) (rs72552300)

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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 RCV000083537 SCV000884272 pathogenic not provided 2017-06-07 criteria provided, single submitter clinical testing The OTC c.67C>T; p.Arg23Ter variant (rs72552300) has been reported in the literature in a patient with ornithine transcarbamylase deficiency (Grompe 1991), is reported in ClinVar as pathogenic (Variation ID: 97292), and is absent from general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). This variant induces an early termination codon and is predicted to result in a truncated protein or absent transcript. Taken together, this variant is considered pathogenic. REFERENCES Link to ClinVar database for p.Arg23Ter: https://www.ncbi.nlm.nih.gov/clinvar/variation/97292/ Grompe M et al. Improved molecular diagnostics for ornithine transcarbamylase deficiency. Am J Hum Genet. 1991 Feb;48(2):212-22.
GenMed Metabolism Lab RCV000083537 SCV000115623 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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