ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.1972C>T (p.Arg658Trp)

gnomAD frequency: 0.00008  dbSNP: rs782702109
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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 RCV000808493 SCV000948603 uncertain significance 5-Oxoprolinase deficiency 2018-09-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 658 of the OPLAH protein (p.Arg658Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs782702109, ExAC 0.01%). This variant has not been reported in the literature in individuals with OPLAH-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV000808493 SCV002781254 uncertain significance 5-Oxoprolinase deficiency 2022-05-04 criteria provided, single submitter clinical testing

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