ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys)

dbSNP: rs1553535841
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000677281 SCV000803414 likely pathogenic not provided 2018-06-21-05:00 criteria provided, single submitter clinical testing
Mendelics RCV000987041 SCV001136229 likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000677281 SCV001823691 likely pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing Identified by exome sequencing in an individual with absent thumb, speech delays, failure to thrive, and microcephaly who also had other variants of uncertain significance in other genes (Thiffault et al., 2018); Identified in a patient with an autism spectrum disorder; however segregation information was not available (Callaghan et al., 2019); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30311385, 31038196)
OMIM RCV001352922 SCV001547544 pathogenic NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES 2022-05-25 no assertion criteria provided literature only

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.