ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.2151C>T (p.Ile717=)

gnomAD frequency: 0.05162  dbSNP: rs115894989
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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 RCV001522868 SCV001732492 benign 5-Oxoprolinase deficiency 2025-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713017 SCV005269721 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003966139 SCV004786618 benign OPLAH-related disorder 2019-09-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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