Submissions for variant NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter)

gnomAD frequency: 0.00002  dbSNP: rs758691852

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department of Biochemistry, Faculty of Medicine, University of Khartoum	RCV001352902	SCV001547513	pathogenic	Syndromic intellectual disability	2021-03-25	criteria provided, single submitter	research	Using whole-exome sequencing, we identified the variant NM_024725.3(CCDC82): c.535C>T (p.Arg179*) (rs758691852) in two siblings with intellectual disability and spasticity. We validated the variant status in the patients using Sanger sequencing and detected it in a heterozygous status in their parents. The variant NM_024725.3(CCDC82): c.535C>T (p.Arg179*) (rs758691852) is predicted to cause premature termination of the CCDC82 protein composed of 544 amino acids. The same variant was identified previously in two patients from Middle-East with non-syndromic ID (Harripaul et al., 2018). Another variant in the CCDC82 gene (NM_024725.3(CCDC82):c.373delG (p.Asp125Ilefs*6)) was identified before in four patients from a Pakistani family, two siblings and their cousins, who manifested a core phenotype of moderate ID and delayed speech (Riazuddin et al., 2017).
GeneDx	RCV002250375	SCV004031768	uncertain significance	not provided	2023-02-28	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; This variant is associated with the following publications: (PMID: 35118659, 28397838)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV002250375	SCV004806225	likely pathogenic	not provided	2024-03-25	criteria provided, single submitter	clinical testing
OMIM	RCV002250375	SCV002520626	uncertain significance	not provided	2022-05-25	no assertion criteria provided	literature only