Submissions for variant NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)

dbSNP: rs1275489527

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001585685	SCV001818097	pathogenic	not provided	2022-12-13	criteria provided, single submitter	clinical testing	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: 28859103, 30796847, 32267091, 33622623, 34748075)
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	RCV000723275	SCV002768226	pathogenic	Intellectual disability, autosomal dominant 39	2022-02-02	criteria provided, single submitter	clinical testing	Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with autosomal dominant intellectual disability 39 (MIM#616521). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from glycine to arginine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated C2HC type zinc finger domain (DECIPHER). (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. It has been reported as de novo in several individuals with MYT1L-related intellectual disability or global developmental delay (PMIDs: 28859103, 30796847 and ClinVar). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed) (by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000723275	SCV000854661	pathogenic	Intellectual disability, autosomal dominant 39	2018-04-13	no assertion criteria provided	clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV000723275	SCV001442975	likely pathogenic	Intellectual disability, autosomal dominant 39	2020-04-03	no assertion criteria provided	clinical testing
GenomeConnect - Brain Gene Registry	RCV000723275	SCV002064266	not provided	Intellectual disability, autosomal dominant 39		no assertion provided	phenotyping only	Variant reported in multiple GenomeConnect participants by lab GeneDx. Variant interpreted as Pathogenic and reported most recently on 12-30-2022 and 06-02-2021. 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.