ClinVar Miner

Submissions for variant NM_000531.5(OTC):c.-116C>T

dbSNP: rs1555971006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000627035 SCV004369846 uncertain significance Ornithine carbamoyltransferase deficiency 2023-07-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 487343). This variant has been observed in individual(s) with clinical features of OTC deficiency (PMID: 29282796; Invitae). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. 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. Studies have shown that this variant alters OTC gene expression (PMID: 29282796). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Caldovic Lab, Children's National Health System RCV000627035 SCV000612172 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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