Submissions for variant NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter)

dbSNP: rs1135401800

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris	RCV000496186	SCV000586761	pathogenic	Syndromic X-linked intellectual disability Claes-Jensen type	2017-01-06	criteria provided, single submitter	clinical testing	Intellectual disability,moderate; microcephaly (-2SD); short stature
Ambry Genetics	RCV000623338	SCV000741427	pathogenic	Inborn genetic diseases	2016-03-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000496186	SCV000894493	pathogenic	Syndromic X-linked intellectual disability Claes-Jensen type	2018-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001553402	SCV001774263	pathogenic	not provided	2023-06-06	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34536985, 28708303)
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV003126757	SCV003803859	pathogenic	Developmental disorder	2022-10-31	criteria provided, single submitter	clinical testing
GenomeConnect - Brain Gene Registry	RCV000496186	SCV002760019	not provided	Syndromic X-linked intellectual disability Claes-Jensen type		no assertion provided	phenotyping only	Variant interpreted as Pathogenic and reported on 01-29-2021 by Lab or GTR ID Children's Hospital of Philadelphia. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.