Submissions for variant NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Revvity Omics, Revvity	RCV003131297	SCV003813933	uncertain significance	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	2023-04-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003679160	SCV004409709	uncertain significance	not provided	2023-06-09	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 198 of the KAT6A protein (p.Lys198Thr). This variant has not been reported in the literature in individuals affected with KAT6A-related conditions. 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 KAT6A protein function. ClinVar contains an entry for this variant (Variation ID: 2432961).
3billion, Medical Genetics	RCV003131297	SCV005328654	likely benign	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	2024-09-20	criteria provided, single submitter	clinical testing	The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.