ClinVar Miner

Submissions for variant NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu)

gnomAD frequency: 0.00149  dbSNP: rs3970555
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872169 SCV001013950 benign Proline dehydrogenase deficiency 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001536039 SCV001752732 likely pathogenic Proline dehydrogenase deficiency; Schizophrenia 4 2021-06-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV000872169 SCV002577366 uncertain significance Proline dehydrogenase deficiency 2022-05-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689909 SCV005186055 uncertain significance not specified 2024-05-02 criteria provided, single submitter clinical testing Variant summary: PRODH c.1217C>T (p.Pro406Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0019 in 250696 control chromosomes in the gnomAD database, including 2 homozygotes. c.1217C>T has been reported in the literature in individuals affected with Hyperprolinemia (example: DiRosa_2014, Jacquet_2005, Raux_2007). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in 10%-<30% of normal activity (Bender_2005). The following publications have been ascertained in the context of this evaluation (PMID: 15662599, 18197084, 15494707, 17135275). ClinVar contains an entry for this variant (Variation ID: 702852). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.