Submissions for variant NM_016335.6(PRODH):c.865T>A (p.Leu289Met)

gnomAD frequency: 0.00464  dbSNP: rs137852934

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000004216	SCV000756185	benign	Proline dehydrogenase deficiency	2024-01-29	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000004216	SCV000845599	uncertain significance	Proline dehydrogenase deficiency	2018-08-07	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000004217	SCV000845600	uncertain significance	Schizophrenia 4	2018-08-07	criteria provided, single submitter	clinical testing
GeneDx	RCV001577052	SCV001804370	likely benign	not provided	2019-07-31	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18506409, 28202261, 12217952, 15662599, 24498354, 15494707)
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001731278	SCV001984468	likely benign	not specified	2020-07-27	criteria provided, single submitter	clinical testing
OMIM	RCV000004216	SCV000024382	pathogenic	Proline dehydrogenase deficiency	2005-03-01	no assertion criteria provided	literature only
OMIM	RCV000004217	SCV000024383	risk factor	Schizophrenia 4	2005-03-01	no assertion criteria provided	literature only