ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.621C>T (p.Ser207=)

gnomAD frequency: 0.00005  dbSNP: rs72558415
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000320040 SCV000482294 likely benign Ornithine carbamoyltransferase deficiency 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV002317876 SCV000850461 benign Inborn genetic diseases 2017-01-31 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV000320040 SCV001123409 benign Ornithine carbamoyltransferase deficiency 2024-01-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000320040 SCV004824158 benign Ornithine carbamoyltransferase deficiency 2024-01-08 criteria provided, single submitter clinical testing

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