ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3418G>A (p.Ala1140Thr)

gnomAD frequency: 0.00001  dbSNP: rs369869329
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502009 SCV000593190 uncertain significance not specified 2016-01-07 criteria provided, single submitter clinical testing
GeneDx 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.
PreventionGenetics, part of Exact Sciences 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.

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