ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1286C>T (p.Ser429Leu)

gnomAD frequency: 0.00001  dbSNP: rs370109948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001591735 SCV001815792 uncertain significance KBG syndrome 2020-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001591735 SCV002222340 uncertain significance KBG syndrome 2022-08-21 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 429 of the ANKRD11 protein (p.Ser429Leu). This variant is present in population databases (rs370109948, gnomAD 0.003%). 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: 1213786). 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. 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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