ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6130G>A (p.Val2044Ile)

gnomAD frequency: 0.00007  dbSNP: rs372141194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232466 SCV001405027 uncertain significance KBG syndrome 2023-04-06 criteria provided, single submitter clinical testing 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: 959170). This variant has not been reported in the literature in individuals affected with ANKRD11-related conditions. This variant is present in population databases (rs372141194, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2044 of the ANKRD11 protein (p.Val2044Ile).
GeneDx RCV001547478 SCV001767193 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563225 SCV003705461 likely benign Inborn genetic diseases 2021-04-17 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.

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