ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.587+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1272869557
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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 RCV001068400 SCV001233512 pathogenic 5-Oxoprolinase deficiency 2019-12-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in OPLAH are known to be pathogenic (PMID: 21651516, 27477828). This variant has been observed in an individual affected with 5-oxoprolinase deficiency (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 5 of the OPLAH gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV001068400 SCV002814228 likely pathogenic 5-Oxoprolinase deficiency 2021-12-01 criteria provided, single submitter clinical testing

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