ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2213G>A (p.Arg738His)

gnomAD frequency: 0.00009  dbSNP: rs370690185
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991528 SCV001143021 uncertain significance not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427441 SCV002729615 likely benign Inborn genetic diseases 2019-07-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002550627 SCV002993590 uncertain significance KBG syndrome 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 738 of the ANKRD11 protein (p.Arg738His). This variant is present in population databases (rs370690185, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ANKRD11-related conditions. ClinVar contains an entry for this variant (Variation ID: 804529). 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 with a negative predictive value of 95%. 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.
Revvity Omics, Revvity Omics RCV002550627 SCV003818628 uncertain significance KBG syndrome 2021-02-02 criteria provided, single submitter clinical testing

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