ClinVar Miner

Submissions for variant NM_000531.5(OTC):c.-142G>A

dbSNP: rs1555971000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000627034 SCV001198711 likely pathogenic Ornithine carbamoyltransferase deficiency 2019-02-06 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this promoter change causes a reduction of OTC transcription (PMID: 29282796). This variant has been observed in individuals affected with clinical features of OTC deficiency (PMID: 29282796, Invitae). ClinVar contains an entry for this variant (Variation ID: 487342). This variant is not present in population databases (ExAC no frequency). This variant occurs in a non-coding region of the OTC gene. It does not change the encoded amino acid sequence of the OTC protein.
Caldovic Lab, Children's National Health System RCV000627034 SCV000612169 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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