ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu) (rs201589586)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710567 SCV000840809 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719919 SCV000850791 likely benign Autism spectrum disorder 2017-01-12 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Invitae RCV000810332 SCV000950527 uncertain significance KBG syndrome 2018-10-29 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 2194 of the ANKRD11 protein (p.Gln2194Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs201589586, ExAC 0.04%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with ANKRD11-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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