ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3056A>G (p.Glu1019Gly)

gnomAD frequency: 0.00001  dbSNP: rs1238391914
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003646594 SCV004453086 uncertain significance Genitopatellar syndrome 2023-09-04 criteria provided, single submitter clinical testing 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 KAT6B 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. This variant has not been reported in the literature in individuals affected with KAT6B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1019 of the KAT6B protein (p.Glu1019Gly).

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