ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.1385A>G (p.Asn462Ser)

dbSNP: rs782662415
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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 RCV001955286 SCV002207998 uncertain significance 5-Oxoprolinase deficiency 2022-05-20 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with OPLAH-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 462 of the OPLAH protein (p.Asn462Ser).
Fulgent Genetics, Fulgent Genetics RCV001955286 SCV002796398 uncertain significance 5-Oxoprolinase deficiency 2022-02-05 criteria provided, single submitter clinical testing

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