Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001865522 | SCV002168882 | uncertain significance | Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 2022-01-11 | criteria provided, single submitter | clinical testing | 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. Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 28714225). ClinVar contains an entry for this variant (Variation ID: 427868). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 28714225). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 367 of the RPE65 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RPE65 protein. |
Mendelics | RCV002248718 | SCV002518986 | pathogenic | Leber congenital amaurosis 2 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
3billion | RCV002248718 | SCV002521227 | likely pathogenic | Leber congenital amaurosis 2 | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.99). The variant is in trans with the other variant (3billion dataset). The variant has been reported to be associated with RPE65 related disorder (ClinVar ID: VCV000427868). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |
Ophthalmic Genetics Group, |
RCV000515747 | SCV004030304 | likely pathogenic | Leber congenital amaurosis | 2023-07-24 | criteria provided, single submitter | research | Clinical significance based on ACMG v2.0 |
Rui Chen Lab, |
RCV000515747 | SCV000579425 | pathogenic | Leber congenital amaurosis | 2017-05-09 | no assertion criteria provided | research |