ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.791C>T (p.Thr264Ile)

dbSNP: rs67156896
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Total submissions: 2
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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 RCV001731371 SCV001983510 uncertain significance not specified 2021-09-02 criteria provided, single submitter clinical testing Variant summary: OTC c.791C>T (p.Thr264Ile) results in a non-conservative amino acid change located in the Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (IPR006131) 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 183176 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.791C>T has been reported in the literature in at-least one Japanese individual affected with Ornithine Transcarbamylase Deficiency and has been subsequently cited by others (Shimadzu_1998, Kido_2021, Caldovic_2015). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
GenMed Metabolism Lab RCV000083575 SCV000115661 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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