ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.236G>A (p.Gly79Glu)

dbSNP: rs72554331
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000011753 SCV005886877 likely pathogenic Ornithine carbamoyltransferase deficiency 2025-01-31 criteria provided, single submitter clinical testing Variant summary: OTC c.236G>A (p.Gly79Glu) results in a non-conservative amino acid change located in the Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domian (IPR006132) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 182630 control chromosomes (gnomAD). c.236G>A has been reported in the literature in individuals affected with Ornithine Transcarbamylase Deficiency (Tuchman_1992, McCullough_2000). At least one publication reports experimental evidence evaluating an impact on protein function and this variant affected OTC protein function (Tuchman_2002). The following publications have been ascertained in the context of this evaluation (PMID: 36303552, 37146589, 28324312, 10946359, 11793468, 1480464, 16786505). ClinVar contains an entry for this variant (Variation ID: 11006). Based on the evidence outlined above, the variant was classified as likely pathogenic.
OMIM RCV000011753 SCV000031985 pathogenic Ornithine carbamoyltransferase deficiency 2002-02-01 no assertion criteria provided literature only
GenMed Metabolism Lab RCV000083369 SCV000115455 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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