ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu)

gnomAD frequency: 0.00027  dbSNP: rs202142344
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317981 SCV000849545 likely benign Inborn genetic diseases 2020-09-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
New York Genome Center RCV001862052 SCV001468818 uncertain significance KBG syndrome 2019-06-21 criteria provided, single submitter clinical testing
GeneDx RCV001556943 SCV001778617 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862052 SCV002317329 uncertain significance KBG syndrome 2025-01-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 588 of the ANKRD11 protein (p.Ser588Leu). This variant is present in population databases (rs202142344, 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: 589037). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.

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