ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.136G>A (p.Ala46Thr)

gnomAD frequency: 0.00001  dbSNP: rs781819330
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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 RCV001936998 SCV002226361 uncertain significance 5-Oxoprolinase deficiency 2023-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with OPLAH-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1440882). This variant is present in population databases (rs781819330, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 46 of the OPLAH protein (p.Ala46Thr).
Fulgent Genetics, Fulgent Genetics RCV001936998 SCV002784982 uncertain significance 5-Oxoprolinase deficiency 2021-11-18 criteria provided, single submitter clinical testing

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