ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1992del (p.Pro665fs)

dbSNP: rs770175184
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224982 SCV001397217 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-10-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Pro665Leufs*10) 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 premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 17345604). ClinVar contains an entry for this variant (Variation ID: 952801). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Baylor Genetics RCV003469395 SCV004216587 pathogenic Bardet-Biedl syndrome 14 2023-07-22 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697079 SCV005197444 likely pathogenic not provided 2022-07-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012637 SCV005631970 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-05-25 criteria provided, single submitter clinical testing

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