Submissions for variant NM_007186.6(CEP250):c.3091C>T (p.Gln1031Ter)

gnomAD frequency: 0.00001  dbSNP: rs1243282597

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001382463	SCV001581237	pathogenic	not provided	2020-12-21	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln1031*) 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 not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CEP250-related conditions. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences	RCV003399201	SCV004121439	likely pathogenic	CEP250-related disorder	2022-12-19	criteria provided, single submitter	clinical testing	The CEP250 c.3091C>T variant is predicted to result in premature protein termination (p.Gln1031*). To our knowledge this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-34082408-C-T). Nonsense variants in CEP250 are expected to be pathogenic, and therefore we interpret c.3091C>T (p.Gln1031*) as likely pathogenic.