ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.1075C>T (p.Arg359Cys)

gnomAD frequency: 0.00001  dbSNP: rs568623659
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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 RCV002006165 SCV002277241 uncertain significance 5-Oxoprolinase deficiency 2022-01-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 359 of the OPLAH protein (p.Arg359Cys). This variant is present in population databases (rs568623659, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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 RCV002006165 SCV002809961 uncertain significance 5-Oxoprolinase deficiency 2021-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045214 SCV003684427 uncertain significance not specified 2024-06-18 criteria provided, single submitter clinical testing The c.1075C>T (p.R359C) alteration is located in exon 8 (coding exon 7) of the OPLAH gene. This alteration results from a C to T substitution at nucleotide position 1075, causing the arginine (R) at amino acid position 359 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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