Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000414150 | SCV000490369 | pathogenic | not provided | 2016-07-19 | criteria provided, single submitter | clinical testing | The W663X pathogenic variant has been reported multiple times in individuals with Stargardt disease and retinal dystrophy (Rivera et al., 2000; Burke et al., 2012; Tiwari et al., 2016). The G1203E variant has been reported in association with autosomal recessive code-rod dystrophy, however specific clinical and segregation information was not provided (Kitiratschky et al., 2008; Zlotogora et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
Ce |
RCV000414150 | SCV001245783 | pathogenic | not provided | 2017-04-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000414150 | SCV001447307 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Institute of Medical Molecular Genetics, |
RCV001353030 | SCV001548143 | likely pathogenic | Retinitis pigmentosa 19 | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000414150 | SCV001590409 | pathogenic | not provided | 2021-01-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with Stargradt disease (PMID: 10958763, 28559085). ClinVar contains an entry for this variant (Variation ID: 372289). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp663*) 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). |