Submissions for variant NM_025114.4(CEP290):c.5803del (p.Glu1935fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002510356	SCV002819543	likely pathogenic	CEP290-related disorder	2022-12-14	criteria provided, single submitter	clinical testing	Variant summary: CEP290 c.5803delG (p.Glu1935LysfsX5) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4.2e-06 in 238836 control chromosomes (gnomAD). c.5803delG has been reported in the literature in at least one compound heterozygous individual affected with Rod-Cone dystrophy (Hull_2020). 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV004796738	SCV005418563	pathogenic	Joubert syndrome 5		criteria provided, single submitter	clinical testing	PM2_Supporting+PVS1+PP4