ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)

gnomAD frequency: 0.00138  dbSNP: rs184143186
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177662 SCV000229564 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000177662 SCV000280622 uncertain significance not provided 2015-06-12 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000177662 SCV000518769 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Invitae RCV001080328 SCV000634655 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000177662 SCV004700164 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CEP290: BS1
Natera, Inc. RCV001273073 SCV001455660 likely benign Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV003150971 SCV003839351 uncertain significance not specified 2022-05-10 no assertion criteria provided clinical testing DNA sequence analysis of the CEP290 gene demonstrated a sequence change, c.4102G>A, in exon 32 that results in an amino acid change, p.Asp1368Asn. This sequence change has been described in the gnomAD database with a frequency of 0.54% in the African/African American subpopulation (dbSNP rs184143186). The p.Asp1368Asn change affects a poorly conserved amino acid residue located in a domain of the CEP290 protein that is not known to be functional. The p.Asp1368Asn substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This sequence change does not appear to have been previously described in individuals with CEP290-related disorders. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Asp1368Asn change remains unknown at this time.

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