ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.198_199+6delinsTTAA

dbSNP: rs1554867698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541059 SCV000626798 likely pathogenic Ornithine aminotransferase deficiency 2016-09-15 criteria provided, single submitter clinical testing This sequence change deletes 9 nucleotides and inserts 5 nucleotides in exon 2 of the OAT mRNA (c.198_199+7delinsTTAAT). It affects the donor splice site in intron 2 of the OAT gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in OAT are known to be pathogenic (PMID: 23076989). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with a OAT-related disease.

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