Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408523 | SCV000281910 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085691 | SCV000511904 | pathogenic | not provided | 2018-06-22 | criteria provided, single submitter | clinical testing | The c.5018+2 T>C variant has been published as a pathogenic variant in association with Stargardt disease (Cideciyan et al., 2009; Rivera et al., 2000; Allikmets et al., 1997). The c.5018+2 T>C splice site variant is expected to destroy the canonical splice donor site in intron 35, and to cause abnormal gene splicing. This is expected to lead to either an abnormal message which is subject to nonsense mediated mRNA decay or to an abnormal protein product if the message is used for protein translation. The c.5018+2 T>C variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is pathogenic. |
Ce |
RCV000085691 | SCV000574764 | pathogenic | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001074630 | SCV001240222 | pathogenic | Retinal dystrophy | 2019-02-05 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000085691 | SCV001447612 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Institute of Medical Molecular Genetics, |
RCV000408523 | SCV001548059 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085691 | SCV001589646 | pathogenic | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 35 of the ABCA4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Stargardt disease (PMID: 19074458, 28947085, 29925512). This variant is also known as IVS35+2 T>C. ClinVar contains an entry for this variant (Variation ID: 99338). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 28118664). For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000085691 | SCV000117831 | not provided | not provided | no assertion provided | not provided | ||
NIHR Bioresource Rare Diseases, |
RCV000408523 | SCV000598988 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2015-01-01 | no assertion criteria provided | research |