ClinVar Miner

Submissions for variant NM_016335.5(PRODH):c.865T>A (p.Leu289Met) (rs137852934)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
Invitae RCV000004216 SCV000756185 uncertain significance Proline dehydrogenase deficiency 2018-06-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 289 of the PRODH protein (p.Leu289Met). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and methionine. This variant has been reported as in combination with another PRODH variant in two individuals affected with mild hyperprolinemia (PMID: 12217952). ClinVar contains an entry for this variant (Variation ID: 4007). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
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

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