ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)

gnomAD frequency: 0.00001  dbSNP: rs1468942944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823686 SCV000964554 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-08-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1268*) 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 (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with Senior-Loken syndrome (PMID: 23188109). ClinVar contains an entry for this variant (Variation ID: 665410). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003467520 SCV004216527 pathogenic Bardet-Biedl syndrome 14 2023-09-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830822 SCV002094247 pathogenic Leber congenital amaurosis 2020-12-30 no assertion criteria provided clinical testing

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