ClinVar Miner

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

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Total submissions: 4
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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

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