ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.867G>A (p.Lys289=)

dbSNP: rs72558456
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002250167 SCV002517835 pathogenic Ornithine carbamoyltransferase deficiency 2022-05-04 criteria provided, single submitter clinical testing
Invitae RCV002250167 SCV003444647 uncertain significance Ornithine carbamoyltransferase deficiency 2022-07-15 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with ornithine transcarbamylase deficiency (PMID: 23278509). In at least one individual the variant was observed to be de novo. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in the activation of a cryptic splice site in exon 8 (PMID: 23278509). ClinVar contains an entry for this variant (Variation ID: 1686000). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 289 of the OTC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the OTC protein. RNA analysis indicates that this variant induces altered splicing and likely results in the loss of 4 amino acid residue(s), but is expected to preserve the integrity of the reading-frame.

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