ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) (rs183655276)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000442189 SCV000780444 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442189 SCV000511628 likely benign not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082249 SCV000114198 likely benign not specified 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000082249 SCV000566049 uncertain significance not specified 2017-06-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CEP290 gene. The D1413H substitution has been reported previously, as a paternally inherited variant in a patient with autism spectrum disorder who did not have any reported history of brain malformations (Mercati et al., 2016). The NHLBI Exome Sequencing Project reports D1413H was observed in 24/8204 (0.3%) alleles from individuals of European American ancestry and the 1000 Genomes Project reports D1413H was observed in 4/214 (1.9%) alleles from individuals of Iberian background. This substitution occurs at a position where amino acids with similar properties to Aspartic acid are tolerated across species. However, the D1413H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genetic Services Laboratory, University of Chicago RCV000082249 SCV000246994 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351974 SCV000381452 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402012 SCV000381453 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307654 SCV000381454 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366483 SCV000381455 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000408211 SCV000381456 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467302 SCV000554515 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082249 SCV000314551 likely benign not specified criteria provided, single submitter clinical testing

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