ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) (rs41298432)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000263675 SCV000387124 benign GTP cyclohydrolase I deficiency 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000430107 SCV000510805 likely benign not provided 2016-08-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455719 SCV000539228 likely benign not specified 2016-03-28 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: Reported in 1 individual with dystonia in trans with a nonsense variant (Jarman 1997). In a family with 2 members, it was identified in 2 affected individuals with DOPA-responsive dystonia and 1 with Parkinsons, this variant was identified in 1 individual with dystonia and 1 with Parkinsons (who also had a Phe104Leu variant) (Mencacci 2014). One of the family members with dystonia only had the Phe104Leu variant. This variant was described as benign due to its MAF. MAF 1.5% in Eur chr.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000430107 SCV000608703 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV001084264 SCV000631822 benign Dystonia 5; GTP cyclohydrolase I deficiency 2020-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000430107 SCV000842148 benign not provided 2017-09-29 criteria provided, single submitter clinical testing
Mendelics RCV000263675 SCV001139463 benign GTP cyclohydrolase I deficiency 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001111087 SCV001268594 benign Dystonia 5 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Elsea Laboratory,Baylor College of Medicine RCV001084264 SCV001424236 uncertain significance Dystonia 5; GTP cyclohydrolase I deficiency 2020-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000430107 SCV001872141 benign not provided 2018-12-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31213404, 30314816, 25497597, 9328244, 19332422, 24993959)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000430107 SCV001739888 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000430107 SCV001800529 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000430107 SCV001922547 likely benign not provided no assertion criteria provided clinical testing

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