ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.212C>G (p.Ser71Cys)

gnomAD frequency: 0.00005  dbSNP: rs782130905
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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 RCV001867132 SCV002118256 uncertain significance 5-Oxoprolinase deficiency 2021-12-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with OPLAH-related conditions. This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 71 of the OPLAH protein (p.Ser71Cys). This variant is present in population databases (rs782130905, gnomAD 0.008%). 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 RCV001867132 SCV002786469 uncertain significance 5-Oxoprolinase deficiency 2022-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039036 SCV003588130 uncertain significance not specified 2022-05-01 criteria provided, single submitter clinical testing The c.212C>G (p.S71C) alteration is located in exon 3 (coding exon 2) of the OPLAH gene. This alteration results from a C to G substitution at nucleotide position 212, causing the serine (S) at amino acid position 71 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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