Submissions for variant NM_032436.4(CHAMP1):c.542_543del (p.Ser181fs)

dbSNP: rs863225077

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000202137	SCV000256076	pathogenic	not provided	2018-03-14	criteria provided, single submitter	clinical testing	The c.542_543delCT variant in the CHAMP1 gene has been reported previously as a de novo variant in an individual with global developmental delay, intellectual disability, dysmorphic features, and spasticity (Tanaka et al., 2016). The c.542_543delCT variant causes a frameshift starting with codon Serine 181, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ser181CysfsX5. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 632 amino acids are replaced with 4 incorrect amino acids. Furthermore, the c.542_543delCT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.542_543delCT as a pathogenic variant.
GenomeConnect - Simons Searchlight	RCV001265231	SCV001443341	pathogenic	CHAMP1-related syndrome	2018-04-20	no assertion criteria provided	provider interpretation	Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-04-20 and interpreted as Pathogenic. Variant was initially reported on 2018-03-27 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.
GenomeConnect - Brain Gene Registry	RCV001788067	SCV002030768	not provided	Intellectual disability, autosomal dominant 40		no assertion provided	phenotyping only	Variant interpreted as Pathogenic and reported on 03-27-2018 by Lab or GTR ID 26957. 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.