ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.2770C>T (p.Arg924Cys)

dbSNP: rs147874057
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439700 SCV000535741 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing The R924C variant in the OPLAH gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed with any significant frequency in approximately 6300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R924C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R924C as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002488980 SCV002784779 uncertain significance 5-Oxoprolinase deficiency 2022-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022514 SCV003527840 uncertain significance not specified 2024-03-12 criteria provided, single submitter clinical testing The c.2770C>T (p.R924C) alteration is located in exon 20 (coding exon 19) of the OPLAH gene. This alteration results from a C to T substitution at nucleotide position 2770, causing the arginine (R) at amino acid position 924 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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