Submissions for variant NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter)

dbSNP: rs1553635637

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000585620	SCV000693100	likely pathogenic	not provided	2018-02-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001783089	SCV002019184	likely pathogenic	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	2020-12-09	criteria provided, single submitter	clinical testing
Invitae	RCV000585620	SCV002163102	pathogenic	not provided	2022-05-16	criteria provided, single submitter	clinical testing	This variant is also known as c.2350C>T; c.2761C>T. ClinVar contains an entry for this variant (Variation ID: 493356). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with SETD5-related disorders (PMID: 28191889, 33004838). This sequence change creates a premature translational stop signal (p.Arg882*) in the SETD5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SETD5 are known to be pathogenic (PMID: 24680889). This variant is not present in population databases (gnomAD no frequency).
GeneDx	RCV000585620	SCV002584249	pathogenic	not provided	2023-05-27	criteria provided, single submitter	clinical testing	Identified in an individual with a neurodevelopmental disorder; however, segregation and detailed clinical information were not provided (Stessman et al., 2017); 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: 28191889, 33004838)
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	RCV000585620	SCV000778295	pathogenic	not provided	2018-01-02	no assertion criteria provided	clinical testing
GenomeConnect - Brain Gene Registry	RCV001783089	SCV003918878	not provided	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		no assertion provided	phenotyping only	Variant interpreted as Pathogenic and reported on 09-08-2020 by lab The 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.