ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.2230C>T (p.Arg744Cys)

gnomAD frequency: 0.00002  dbSNP: rs371837669
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714676 SCV000845396 uncertain significance 5-Oxoprolinase deficiency 2018-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000714676 SCV002789938 uncertain significance 5-Oxoprolinase deficiency 2022-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004837775 SCV005465002 uncertain significance not specified 2024-10-19 criteria provided, single submitter clinical testing The c.2230C>T (p.R744C) alteration is located in exon 16 (coding exon 15) of the OPLAH gene. This alteration results from a C to T substitution at nucleotide position 2230, causing the arginine (R) at amino acid position 744 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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