ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)

dbSNP: rs878853362
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383420 SCV001582561 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2020-07-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115, 25377065, 28559085). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 29178642, 27208204). ClinVar contains an entry for this variant (Variation ID: 236467). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met1061Alafs*8) in the CEP290 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV002478827 SCV002789993 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-02-10 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225531 SCV000282573 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing
Natera, Inc. RCV001828101 SCV002094269 pathogenic Leber congenital amaurosis 2021-06-10 no assertion criteria provided clinical testing

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