ClinVar Miner

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

dbSNP: rs770175184
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 952801). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 17345604). This variant is not present in population databases (gnomAD no frequency). 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).
Baylor Genetics RCV003469395 SCV004216587 pathogenic Bardet-Biedl syndrome 14 2023-07-22 criteria provided, single submitter clinical testing

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