ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.437del (p.Glu146fs)

gnomAD frequency: 0.00001  dbSNP: rs1452465499
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596455 SCV000701995 pathogenic not provided 2016-11-09 criteria provided, single submitter clinical testing
Invitae RCV001381364 SCV001579728 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-11-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu146Glyfs*17) 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 premature translational stop signal has been observed in individual(s) with clinical features of Leber congenital amaurosis (PMID: 20683928). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 497475).
Fulgent Genetics, Fulgent Genetics RCV002483577 SCV002785064 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-01-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465333 SCV004216528 pathogenic Bardet-Biedl syndrome 14 2023-09-20 criteria provided, single submitter clinical testing

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