Submissions for variant NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) (rs146264035)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420865	SCV000518564	uncertain significance	not specified	2016-11-15	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the ARL13B gene. The G384E variant was previously reported in an individual with Joubert syndrome who did not harbor a second ARL13B variant (Kroes et al. 2015). It was not observed in with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, nor was it observed with any significant frequency in the 1000 Genomes Project. The G348E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics	RCV000764518	SCV000895600	uncertain significance	Joubert syndrome 8	2018-10-31	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000764518	SCV000923582	uncertain significance	Joubert syndrome 8	2019-01-01	criteria provided, single submitter	clinical testing
Invitae	RCV000764518	SCV001000702	likely benign	Joubert syndrome 8	2019-12-31	criteria provided, single submitter	clinical testing