Submissions for variant NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys)

gnomAD frequency: 0.00001  dbSNP: rs1114167292

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001753710	SCV001987990	uncertain significance	not provided	2019-04-29	criteria provided, single submitter	clinical testing	Identified with a second homozygous missense variant in RUBCN in two siblings with developmental delay, intellectual disability, hypotonia, diffuse cortical hypomyelination, contractures of elbows and knees, and nystagmus (Charng et al., 2016); note this variant is referred to as p.Glu107Lys using alternate nomenclature; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 27435318)
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000491074	SCV000282203	pathogenic	Global developmental delay; Nystagmus; Intellectual disability; Elbow flexion contracture; Knee flexion contracture; Cerebral hypomyelination; Hypotonia	2016-01-10	no assertion criteria provided	research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000985214	SCV001133244	uncertain significance	Autosomal recessive spinocerebellar ataxia 15	2019-09-26	no assertion criteria provided	clinical testing