ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1830del (p.Glu610fs)

dbSNP: rs992032116
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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 RCV001953901 SCV002247000 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu610Aspfs*7) 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 0.001%). This premature translational stop signal has been observed in individual(s) with clinical features of Leber congenital amaurosis (PMID: 21153841). ClinVar contains an entry for this variant (Variation ID: 1457703). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002484803 SCV002793601 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-01-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003471185 SCV004216655 pathogenic Bardet-Biedl syndrome 14 2024-02-22 criteria provided, single submitter clinical testing

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