Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000085790 | SCV000344007 | pathogenic | not provided | 2016-08-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085790 | SCV000890157 | pathogenic | not provided | 2018-10-24 | criteria provided, single submitter | clinical testing | The R2040X nonsense variant in the ABCA4 gene has been reported in association with Stargardt disease (Baum et al., 2003; Downes et al., 2012; Fujinami et al., 2013; Jiang et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R2040X variant was observed in 3/18866 (0.016%) alleles in East Asian individuals in large population databases (Lek et al., 2016). We interpret R2040X as a pathogenic variant. |
Fulgent Genetics, |
RCV000763435 | SCV000894202 | pathogenic | Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001073783 | SCV001239344 | pathogenic | Retinal dystrophy | 2018-01-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085790 | SCV001412233 | pathogenic | not provided | 2023-10-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2040*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is present in population databases (rs61753038, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with ABCA4-related retinal dystrophy (PMID: 26161775, 29555955, 29925512; Invitae). ClinVar contains an entry for this variant (Variation ID: 99431). For these reasons, this variant has been classified as Pathogenic. |
3billion | RCV002283455 | SCV002572603 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). Stop-gained (nonsense) is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000099431 / PMID: 12592048 / 3billion dataset). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
Retina International | RCV000085790 | SCV000117932 | not provided | not provided | no assertion provided | not provided | ||
Department of Clinical Genetics, |
RCV000787772 | SCV000926777 | likely pathogenic | Stargardt disease | 2018-04-01 | no assertion criteria provided | research |