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

dbSNP: rs1555971006

Total submissions: 2

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.