ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.482A>G (p.Asn161Ser)

dbSNP: rs72556271
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000083455 SCV000517320 pathogenic not provided 2015-05-22 criteria provided, single submitter clinical testing The N161S missense variant in the OTC gene has been reported previously in associationwith OTC deficiency (Tuchman and Plante, 1995; Lipskind et al. 2011). Approximately20% of females who are heterozygous for variants in the OTC gene are clinicallysymptomatic with disease severity similar to males with partial deficiency (Yamaguchi etal., 2006; Tuchman et al., 2002). Therefore, we interpret the N161S variant as pathogenic.
Invitae RCV000793302 SCV000932650 pathogenic Ornithine carbamoyltransferase deficiency 2023-04-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects OTC function (PMID: 17041896). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt OTC protein function. ClinVar contains an entry for this variant (Variation ID: 97216). This missense change has been observed in individual(s) with ornithine transcarbamylase deficiency (PMID: 8786061, 11388595, 12083811, 21956151, 25994866). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 161 of the OTC protein (p.Asn161Ser).
Genome-Nilou Lab RCV000793302 SCV002033220 pathogenic Ornithine carbamoyltransferase deficiency 2021-11-07 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083455 SCV000115541 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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