ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2112del (p.Val705fs)

dbSNP: rs863225183
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201612 SCV000256375 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000686453 SCV000813972 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-01-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 217627). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 26092869). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val705Leufs*11) 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).
GeneDx RCV002273985 SCV002559632 pathogenic not provided 2022-02-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26092869)
Baylor Genetics RCV003468920 SCV004216696 pathogenic Bardet-Biedl syndrome 14 2023-02-26 criteria provided, single submitter clinical testing

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