ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5875G>A (p.Ala1959Thr) (rs372148958)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718331 SCV000849193 uncertain significance Autism spectrum disorder 2017-03-10 criteria provided, single submitter clinical testing The p.A1959T variant (also known as c.5875G>A), located in coding exon 7 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 5875. The alanine at codon 1959 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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 variant remains unclear.
Invitae RCV001323219 SCV001514127 uncertain significance KBG syndrome 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1959 of the ANKRD11 protein (p.Ala1959Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ANKRD11-related conditions. ClinVar contains an entry for this variant (Variation ID: 588875). 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. 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.

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