Submissions for variant NM_001379291.1(BRD4):c.517A>G (p.Ile173Val)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003725628	SCV004521439	uncertain significance	not provided	2023-02-17	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with BRD4-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 BRD4 protein function. This variant is present in population databases (rs752951417, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 173 of the BRD4 protein (p.Ile173Val).
CeGaT Center for Human Genetics Tuebingen	RCV003725628	SCV004810656	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	BRD4: BP4