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 uncertain significance not provided 2021-06-23 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30919572, 27535533)
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 Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign)

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