ClinVar Miner

Submissions for variant NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys)

gnomAD frequency: 0.01765  dbSNP: rs3970559
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454992 SCV000540120 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 3% in African population, >1% in most other populations. In addition, no clearly associated clinical manifestations
Labcorp Genetics (formerly Invitae), Labcorp RCV000004214 SCV000631842 benign Proline dehydrogenase deficiency 2024-01-26 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000454992 SCV000864289 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing BS1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
OMIM RCV000004214 SCV000024380 pathogenic Proline dehydrogenase deficiency 2005-03-01 no assertion criteria provided literature only
OMIM RCV000004215 SCV000024381 risk factor Schizophrenia 4 2005-03-01 no assertion criteria provided literature only

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