ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1243282597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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.

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