ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)

dbSNP: rs1440259390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906982 SCV002178479 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu714*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 1406753). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471033 SCV004216619 likely pathogenic Bardet-Biedl syndrome 14 2023-06-14 criteria provided, single submitter clinical testing

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