ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)

dbSNP: rs62640574
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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 RCV001385691 SCV001585640 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1591*) 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 CEP290-related conditions (PMID: 16682973, 24474277). This variant is also known as p.Q1597*. ClinVar contains an entry for this variant (Variation ID: 99856). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003467013 SCV004216606 pathogenic Bardet-Biedl syndrome 14 2024-01-30 criteria provided, single submitter clinical testing
Retina International RCV000086293 SCV000118439 not provided not provided no assertion provided not provided
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002936 SCV001160971 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004542803 SCV004779431 pathogenic CEP290-related disorder 2024-01-18 no assertion criteria provided clinical testing The CEP290 c.4771C>T variant is predicted to result in premature protein termination (p.Gln1591*). This variant was reported in the homozygous state in an individual with Leber congenital amaurosis (Beryozkin et al. 2014. PubMed ID: 24474277) and in the heterozygous state without a second identified variant in two relatives with Joubert syndrome (Sayer et al. 2006. PubMed ID: 16682973). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CEP290 are expected to be pathogenic. This variant is interpreted as pathogenic.

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