Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001360264 | SCV001556175 | uncertain significance | not provided | 2022-11-20 | 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. ClinVar contains an entry for this variant (Variation ID: 156397). This missense change has been observed in individual(s) with Leber congenital amaurosis (PMID: 25445212). This variant is present in population databases (rs587783025, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 35 of the GUCA1B protein (p.Gly35Ser). |
Molecular Diagnostics Laboratory, |
RCV000144479 | SCV000189614 | uncertain significance | Leber congenital amaurosis | 2014-09-18 | no assertion criteria provided | clinical testing |