ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)

gnomAD frequency: 0.00002  dbSNP: rs137852833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851541 SCV002118359 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu750*) 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 present in population databases (rs137852833, gnomAD 0.001%). This premature translational stop signal has been observed in individual(s) with leber congenital amaurosis (PMID: 16909394, 28559085). ClinVar contains an entry for this variant (Variation ID: 1338). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003466777 SCV004216633 pathogenic Bardet-Biedl syndrome 14 2023-12-14 criteria provided, single submitter clinical testing
OMIM RCV000001401 SCV000021551 pathogenic Leber congenital amaurosis 10 2006-09-01 no assertion criteria provided literature only

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