ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)

dbSNP: rs771266705
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625900 SCV000746479 pathogenic Bardet-Biedl syndrome 14 2017-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001041101 SCV001204697 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile474Argfs*5) 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 (rs771266705, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Senior-L‚àö‚àèken syndrome (PMID: 17617513). ClinVar contains an entry for this variant (Variation ID: 522742). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000625900 SCV005057322 pathogenic Bardet-Biedl syndrome 14 2024-03-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005004279 SCV005631997 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-02-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579418 SCV001807162 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579418 SCV001971197 pathogenic not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001834980 SCV002094331 pathogenic Leber congenital amaurosis 2021-05-06 no assertion criteria provided clinical testing

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