ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs)

dbSNP: rs766608755
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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) RCV000175482 SCV000226966 pathogenic not provided 2014-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001220534 SCV001392529 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg621Ilefs*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 (rs766608755, gnomAD 0.004%). This premature translational stop signal has been observed in individuals with CEP290-related conditions (PMID: 17345604, 27894351). This variant is also known as c.1855-1858delAAAG. ClinVar contains an entry for this variant (Variation ID: 194988). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003468856 SCV004216669 pathogenic Bardet-Biedl syndrome 14 2024-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826887 SCV002094318 pathogenic Leber congenital amaurosis 2021-04-07 no assertion criteria provided clinical testing

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