ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)

gnomAD frequency: 0.00013  dbSNP: rs386834153
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053674 SCV001217947 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu97*) 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). 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. This premature translational stop signal has been observed in individual(s) with Meckel syndrome (PMID: 19466712). ClinVar contains an entry for this variant (Variation ID: 56734). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001091341 SCV001247309 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000050147 SCV001440935 pathogenic Meckel syndrome, type 4 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
GeneDx RCV001091341 SCV001770052 likely pathogenic not provided 2019-05-21 criteria provided, single submitter clinical testing Nonsense 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; This variant is associated with the following publications: (PMID: 31734136, 19466712, 25525159)
Baylor Genetics RCV003466923 SCV004216652 pathogenic Bardet-Biedl syndrome 14 2023-04-28 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050147 SCV000082557 probable-pathogenic Meckel syndrome, type 4 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Natera, Inc. RCV001274137 SCV001457934 pathogenic Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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