ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.953_955CTC[1] (p.Pro319del) (rs1555976710)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622323 SCV000742031 uncertain significance Inborn genetic diseases 2017-04-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV001203810 SCV001374987 uncertain significance Ornithine carbamoyltransferase deficiency 2019-09-13 criteria provided, single submitter clinical testing This variant, c.956_958del, results in the deletion of 1 amino acid(s) of the OTC protein (p.Pro319del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with OTC deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 521440). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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