Submissions for variant NM_001368067.1(LDB3):c.802C>G (p.Arg268Gly)

dbSNP: rs121908335

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001211198	SCV001382725	uncertain significance	Myofibrillar myopathy 4	2019-06-09	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glycine at codon 268 of the LDB3 protein (p.Arg268Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LDB3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
CeGaT Center for Human Genetics Tuebingen	RCV003425993	SCV004127007	uncertain significance	not provided	2022-03-01	criteria provided, single submitter	clinical testing	LDB3: PM2, PM5:Supporting, BP4