Submissions for variant NM_018896.5(CACNA1G):c.305G>A (p.Arg102Gln)

gnomAD frequency: 0.00003  dbSNP: rs763813233

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443532	SCV000534668	uncertain significance	not provided	2016-12-21	criteria provided, single submitter	clinical testing	The R102Q variant in the CACNA1G gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. The R102Q variant was not observed in approximately6400 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. The R102Q variant is asemi-conservative amino acid substitution, which may impact secondary protein structure as theseresidues differ in some properties. However, this substitution occurs at a position that is not conserved.In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to theprotein structure/function. We interpret R102Q as a variant of uncertain significance.
Invitae	RCV000443532	SCV003027418	likely benign	not provided	2023-08-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000443532	SCV004140823	uncertain significance	not provided	2023-03-01	criteria provided, single submitter	clinical testing	CACNA1G: PP2