Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001058789 | SCV001223383 | uncertain significance | not provided | 2019-11-27 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with clinical features of ABCA4-related disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 1025 of the ABCA4 protein (p.Leu1025Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |