ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.272G>A (p.Arg91Gln)

gnomAD frequency: 0.00007  dbSNP: rs554854985
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232133 SCV001404679 uncertain significance 5-Oxoprolinase deficiency 2019-08-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 91 of the OPLAH protein (p.Arg91Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs554854985, ExAC 0.04%). This variant has not been reported in the literature in individuals with OPLAH-related conditions. 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 C35"). 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 RCV001232133 SCV002786863 uncertain significance 5-Oxoprolinase deficiency 2021-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033147 SCV003702614 uncertain significance not specified 2022-09-26 criteria provided, single submitter clinical testing The c.272G>A (p.R91Q) alteration is located in exon 3 (coding exon 2) of the OPLAH gene. This alteration results from a G to A substitution at nucleotide position 272, causing the arginine (R) at amino acid position 91 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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