Submissions for variant NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs)

dbSNP: rs587783010

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001090826	SCV001246572	pathogenic	not provided	2019-06-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003230417	SCV003928590	pathogenic	CEP290-related disorder	2023-04-14	criteria provided, single submitter	clinical testing	Variant summary: CEP290 c.2248_2249delTT (p.Leu750ThrfsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 187158 control chromosomes. c.2248_2249delTT has been reported in the literature in at least one individual affected with CEP290-Related Disorders. These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics	RCV003467202	SCV004216771	pathogenic	Bardet-Biedl syndrome 14	2021-12-30	criteria provided, single submitter	clinical testing
Molecular Diagnostics Laboratory, Seoul National University Hospital	RCV000144460	SCV000189594	pathogenic	Leber congenital amaurosis 10	2014-09-18	no assertion criteria provided	clinical testing