Submissions for variant NM_012330.4(KAT6B):c.3730T>C (p.Cys1244Arg)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003646952	SCV004519585	uncertain significance	Genitopatellar syndrome	2022-11-20	criteria provided, single submitter	clinical testing	This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 1244 of the KAT6B protein (p.Cys1244Arg). 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 KAT6B protein function. This variant has not been reported in the literature in individuals affected with KAT6B-related conditions. This variant is present in population databases (rs751941544, gnomAD 0.0009%).
PreventionGenetics, part of Exact Sciences	RCV004723443	SCV005336757	likely benign	KAT6B-related disorder	2024-07-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).