ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.4272_4273delinsT (p.Leu1425fs)

dbSNP: rs2064043746
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244680 SCV001417916 pathogenic not provided 2023-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1425Serfs*2) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CEP250-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database.

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