Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488170 | SCV000575519 | uncertain significance | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000626221 | SCV000746866 | benign | Autism spectrum disorder due to AUTS2 deficiency | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000488170 | SCV003490604 | uncertain significance | not provided | 2023-12-27 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 432 of the AUTS2 protein (p.Pro432His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with AUTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 425414). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AUTS2 protein function with a negative predictive value of 80%. 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. |
Prevention |
RCV003962354 | SCV004776895 | likely benign | AUTS2-related condition | 2023-05-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |