Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003558594 | SCV004292355 | pathogenic | not provided | 2023-05-27 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with Stargardt disease (PMID: 22229821, 30718709). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 2160 of the ABCA4 protein (p.Lys2160Glu). 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: 29162642). 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: 635991). |
Department of Clinical Genetics, |
RCV000787524 | SCV000926492 | likely pathogenic | Stargardt disease | 2018-04-01 | no assertion criteria provided | research |