Submissions for variant NM_000531.6(OTC):c.422G>A (p.Arg141Gln) (rs68026851)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000083434	SCV000230943	pathogenic	not provided	2015-05-19	criteria provided, single submitter	clinical testing
Fulgent Genetics,Fulgent Genetics	RCV000011734	SCV000894489	pathogenic	Ornithine carbamoyltransferase deficiency	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000011734	SCV001212429	pathogenic	Ornithine carbamoyltransferase deficiency	2019-12-11	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glutamine at codon 141 of the OTC protein (p.Arg141Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with ornithine transcarbamylase deficiency in several individuals and families (PMID: 3170748, 8830175, 8985493, 30175132). This variant is also known as Arg109Gln in the literature. ClinVar contains an entry for this variant (Variation ID: 10987). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
OMIM	RCV000011734	SCV000031966	pathogenic	Ornithine carbamoyltransferase deficiency	1992-06-01	no assertion criteria provided	literature only
GenMed Metabolism Lab	RCV000083434	SCV000115520	pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Pathogenic.