ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2632del (p.Ile878fs)

dbSNP: rs1404507934
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335136 SCV001528197 pathogenic Senior-Loken syndrome 6 2018-05-22 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001390586 SCV001592367 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile878Tyrfs*14) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032903). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002504524 SCV002800287 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-11-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531121 SCV004115179 likely pathogenic CEP290-related disorder 2023-05-30 criteria provided, single submitter clinical testing The CEP290 c.2632delA variant is predicted to result in a frameshift and premature protein termination (p.Ile878Tyrfs*14). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in CEP290 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Baylor Genetics RCV003462904 SCV004214848 likely pathogenic Bardet-Biedl syndrome 14 2023-10-20 criteria provided, single submitter clinical testing

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