Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597749 | SCV000704801 | uncertain significance | not provided | 2016-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315891 | SCV000848249 | likely benign | Inborn genetic diseases | 2017-12-07 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV000597749 | SCV003459075 | uncertain significance | not provided | 2023-05-21 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 355 of the ADNP protein (p.Ala355Thr). This variant is present in population databases (rs200625964, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 499359). This variant has not been reported in the literature in individuals affected with ADNP-related conditions. |
Prevention |
RCV003945402 | SCV004766169 | likely benign | ADNP-related condition | 2022-11-09 | 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). |