Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502009 | SCV000593190 | uncertain significance | not specified | 2016-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584210 | SCV001820343 | likely benign | not provided | 2021-04-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001865596 | SCV002279340 | uncertain significance | KBG syndrome | 2021-06-29 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with threonine at codon 1140 of the ANKRD11 protein (p.Ala1140Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. 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. 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 ANKRD11 protein function. ClinVar contains an entry for this variant (Variation ID: 434199). This variant has not been reported in the literature in individuals affected with ANKRD11-related conditions. This variant is present in population databases (rs369869329, ExAC no frequency). |
Ambry Genetics | RCV002455963 | SCV002614310 | uncertain significance | Inborn genetic diseases | 2017-06-26 | criteria provided, single submitter | clinical testing | The p.A1140T variant (also known as c.3418G>A), located in coding exon 7 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 3418. The alanine at codon 1140 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003932813 | SCV004758082 | uncertain significance | ANKRD11-related condition | 2024-02-14 | criteria provided, single submitter | clinical testing | The ANKRD11 c.3418G>A variant is predicted to result in the amino acid substitution p.Ala1140Thr. To our knowledge, this variant has not been reported in the literature. This variant has been reported in 2 heterozygous individuals of unknown phenotype in the "Other" subpopulation in the gnomAD database. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |