ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)

gnomAD frequency: 0.00002  dbSNP: rs770126103
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058714 SCV001223305 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln123*) 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 present in population databases (rs770126103, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 21602930, 28453600). ClinVar contains an entry for this variant (Variation ID: 853824). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002497434 SCV002797752 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-04-08 criteria provided, single submitter clinical testing
Pangenia Genomics, Pangenia Inc. RCV003228800 SCV003925674 pathogenic CEP290-related disorder 2021-11-18 criteria provided, single submitter research The CEP290, c.367C>T (p.Gln123*) variant creates a premature translational stop signal in the CEP290 gene, expected to result in an absent or disrupted protein product. Loss-of-function variants in the CEP290 gene are known to be disease-causing [PMID: 16909394, 17345604, 20690115]. This variant is detected together with another pathogenic variant [CEP290, c.5726T>G (p.Leu1909*)]. This variant is at extremely low frequency in population database; allele frequency in East Asia population is 0.0002 by gnomAD v2.1.1. This variant has been observed in individuals affected by Leber Congenital Amaurosis (LCA), together with another variant in the CEP290 gene [PMID: 27375279, 26047050, 28453600, 21602930]. In at least two individuals, the two variants were determined to be in trans [PMID: 26047050, 28453600]. There are multiple submissions of this variant in ClinVar (Variation ID: 853824), rated as Pathogenic.
Baylor Genetics RCV003462577 SCV004214824 pathogenic Bardet-Biedl syndrome 14 2024-03-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832529 SCV002094938 pathogenic Leber congenital amaurosis 2021-03-17 no assertion criteria provided clinical testing

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