ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5009_5012del (p.Leu1670fs)

dbSNP: rs2137150860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960598 SCV002229924 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1670Cysfs*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). 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. This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 31630094). This variant is not present in population databases (gnomAD no frequency).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796693 SCV005417568 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 criteria provided, single submitter clinical testing PVS1+PM2_Supporting

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