Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000085587 | SCV000705132 | uncertain significance | not provided | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085587 | SCV003300440 | uncertain significance | not provided | 2022-05-09 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1204 of the ABCA4 protein (p.Asp1204Asn). This variant is present in population databases (rs61750127, gnomAD 0.005%). This missense change has been observed in individual(s) with Stargardt disease and age-related macular degeneration (PMID: 9973280, 15192030, 24409374). ClinVar contains an entry for this variant (Variation ID: 99234). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Retina International | RCV000085587 | SCV000117725 | not provided | not provided | no assertion provided | not provided |