Submissions for variant NM_007186.6(CEP250):c.2647del (p.Glu883fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV003848646	SCV004694563	pathogenic	not provided	2023-12-02	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu883Lysfs*7) in the CEP250 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP250 are known to be pathogenic (PMID: 24780881, 29718797). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences	RCV003966712	SCV004786058	likely pathogenic	CEP250-related disorder	2024-02-29	criteria provided, single submitter	clinical testing	The CEP250 c.2647delG variant is predicted to result in a frameshift and premature protein termination (p.Glu883Lysfs*7). To our knowledge, this variant has not been reported in individuals with CEP250-associated disorders in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in CEP250 are expected to be pathogenic. This variant is interpreted as likely pathogenic.