Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177661 | SCV000229563 | uncertain significance | not provided | 2014-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001239880 | SCV001412783 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2022-10-27 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1344 of the CEP290 protein (p.Val1344Ala). This variant is present in population databases (rs369227219, gnomAD 0.2%). 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: 196794). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |
Revvity Omics, |
RCV000177661 | SCV003831590 | uncertain significance | not provided | 2020-04-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000177661 | SCV003837178 | uncertain significance | not provided | 2023-03-06 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003977452 | SCV004797778 | likely benign | CEP290-related condition | 2022-02-24 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001826902 | SCV002094240 | uncertain significance | Leber congenital amaurosis | 2019-10-28 | no assertion criteria provided | clinical testing |