ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del)

dbSNP: rs2068592611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341663 SCV001535545 pathogenic Ornithine carbamoyltransferase deficiency 2023-07-17 criteria provided, single submitter clinical testing This variant, c.1020_1028del, results in the deletion of 3 amino acid(s) of the OTC protein (p.Leu341_Thr343del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with hyperammonemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 1038367). This variant disrupts a region of the OTC protein in which other variant(s) (p.Thr343Arg) have been determined to be pathogenic (PMID: 25433810; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001341663 SCV002087187 uncertain significance Ornithine carbamoyltransferase deficiency 2020-07-24 no assertion criteria provided clinical testing

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