ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.85C>G (p.Gln29Glu)

gnomAD frequency: 0.00004  dbSNP: rs752916728
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001249000 SCV001422844 uncertain significance not specified 2020-01-22 criteria provided, single submitter curation The p.Gln29Glu variant in OTC has not been previously reported in individuals with Ornithine transcarbamylase deficiency but has been identified in 0.05124% (14/27320) of Latino chromosomes, including 3 hemizygotes, and 0.001232% (1/81172) of European (non-Finnish) chromosomes, including 1 hemizygote, by the Genome Aggregation Database (gnomAD,; dbSNP rs752916728). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Gln29Glu variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: BS1 (Richards 2015).
Invitae RCV001511499 SCV001718760 benign Ornithine carbamoyltransferase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447234 SCV002676374 likely benign Inborn genetic diseases 2022-06-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001511499 SCV002087159 likely benign Ornithine carbamoyltransferase deficiency 2021-08-18 no assertion criteria provided clinical testing

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