ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.1933C>T (p.Arg645Cys)

gnomAD frequency: 0.00051  dbSNP: rs201475103
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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 RCV002219075 SCV002379428 likely benign 5-Oxoprolinase deficiency 2024-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045664 SCV003694287 uncertain significance not specified 2022-05-25 criteria provided, single submitter clinical testing The c.1933C>T (p.R645C) alteration is located in exon 14 (coding exon 13) of the OPLAH gene. This alteration results from a C to T substitution at nucleotide position 1933, causing the arginine (R) at amino acid position 645 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004706304 SCV005222363 likely benign not provided criteria provided, single submitter not provided

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