Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000995407 | SCV001149550 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Knight Diagnostic Laboratories, |
RCV001270044 | SCV001448772 | uncertain significance | Autism; Global developmental delay; Feeding difficulties; Delayed speech and language development; Microcephaly; Abnormality of eye movement; Generalized hypotonia; Gastroesophageal reflux; Abnormality of speech or vocalization; Hypotonia | 2019-03-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000995407 | SCV002285443 | uncertain significance | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 294 of the AP3B2 protein (p.Lys294Thr). This variant is present in population databases (rs200983489, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with AP3B2-related conditions. ClinVar contains an entry for this variant (Variation ID: 807299). 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. 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. |
Revvity Omics, |
RCV003141915 | SCV003826806 | uncertain significance | Developmental and epileptic encephalopathy, 48 | 2022-06-30 | criteria provided, single submitter | clinical testing |