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

gnomAD frequency: 0.00867  dbSNP: rs185836803

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV004712005	SCV005269714	benign	not provided		criteria provided, single submitter	not provided
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.
PreventionGenetics, part of Exact Sciences	RCV003914892	SCV004731951	likely benign	OPLAH-related disorder	2020-11-30	no assertion criteria provided	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).