Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001857421 | SCV002267748 | uncertain significance | Leber congenital amaurosis 7; Cone-rod dystrophy 2 | 2022-03-03 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 112 of the CRX protein (p.Ala112Val). This variant is present in population databases (rs61748439, gnomAD 0.1%). This missense change has been observed in individual(s) with inherited retinal dystrophy (PMID: 22960069, 31626798). ClinVar contains an entry for this variant (Variation ID: 99602). 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 | RCV000085998 | SCV000118141 | not provided | not provided | no assertion provided | not provided |