ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5163del (p.Thr1722fs)

gnomAD frequency: 0.00001  dbSNP: rs1565827171
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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 RCV001900889 SCV002161631 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-09-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1722Glnfs*2) 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 (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis or clinical features of Joubert syndrome (PMID: 17345604, 17617513). ClinVar contains an entry for this variant (Variation ID: 1394365). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471009 SCV004216743 pathogenic Bardet-Biedl syndrome 14 2023-12-19 criteria provided, single submitter clinical testing

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