Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Blueprint Genetics | RCV001074707 | SCV001240300 | uncertain significance | Retinal dystrophy | 2019-04-03 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001324843 | SCV001515809 | pathogenic | not provided | 2023-09-08 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1617 of the ABCA4 protein (p.Val1617Met). For these reasons, this variant has been classified as Pathogenic. Studies have shown that this missense change is associated with altered splicing resulting in multiple RNA products (PMID: 31212395). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 866589). This missense change has been observed in individual(s) with clinical features of ABCA4-related conditions and/or Stargardt disease (PMID: 17296903, 31212395; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. |