Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001035058 | SCV001198367 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1258 of the CEP290 protein (p.Asn1258Ser). This variant is present in population databases (rs200830750, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 834384). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CEP290 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV002505556 | SCV002817063 | uncertain significance | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2021-10-27 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV003227897 | SCV003925375 | uncertain significance | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 | 2022-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004030946 | SCV004926225 | uncertain significance | Inborn genetic diseases | 2023-12-09 | criteria provided, single submitter | clinical testing | The c.3773A>G (p.N1258S) alteration is located in exon 31 (coding exon 30) of the CEP290 gene. This alteration results from a A to G substitution at nucleotide position 3773, causing the asparagine (N) at amino acid position 1258 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001836069 | SCV002094251 | uncertain significance | Leber congenital amaurosis | 2020-02-26 | no assertion criteria provided | clinical testing |