ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile)

gnomAD frequency: 0.00867  dbSNP: rs185836803
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032836 SCV001726734 benign 5-Oxoprolinase deficiency 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000032836 SCV002802994 likely benign 5-Oxoprolinase deficiency 2021-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003914892 SCV004731951 likely benign OPLAH-related disorder 2020-11-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000032836 SCV000056605 pathogenic 5-Oxoprolinase deficiency 2013-01-01 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000032836 SCV001142394 benign 5-Oxoprolinase deficiency 2020-01-06 no assertion criteria provided curation NM_017570.3:c.3265G>A in the OPLAH gene has an allele frequency of 0.024 in Latino subpopulation in the gnomAD database, including 13 homozygous occurrences. It has been detected in heterozygous state in one individual with 5-oxoprolinuria (PMID: 23430506). Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2, PP4.

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