ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln) (rs199800166)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493061 SCV000583171 likely pathogenic not provided 2015-09-10 criteria provided, single submitter clinical testing The R895Q variant in the ANKRD11 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The R895Q variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R895Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant likely does not alter the protein structure/function. The R895Q variant is a strong candidate for a disease-causing variant, however the possibility it may be a rare benign variant cannot be excluded
Invitae RCV000696596 SCV000825161 uncertain significance KBG syndrome 2019-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 895 of the ANKRD11 protein (p.Arg895Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs199800166, ExAC 0.01%). This variant has not been reported in the literature in individuals with ANKRD11-related conditions. ClinVar contains an entry for this variant (Variation ID: 430379). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV000719966 SCV000850840 likely benign Autism spectrum disorder 2017-12-06 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance)

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