ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)

gnomAD frequency: 0.00001  dbSNP: rs750073051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090822 SCV001246561 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554821 SCV003441113 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2011*) 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. ClinVar contains an entry for this variant (Variation ID: 871059). This premature translational stop signal has been observed in individual(s) with clinical features of Leber congenital amaurosis (PMID: 17564967, 31054281). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.
Baylor Genetics RCV003469281 SCV004216641 pathogenic Bardet-Biedl syndrome 14 2023-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012544 SCV005630425 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-06-03 criteria provided, single submitter clinical testing

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