Submissions for variant NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg)

dbSNP: rs1216562585

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000522451	SCV000620583	uncertain significance	not provided	2017-09-13	criteria provided, single submitter	clinical testing	The S1105R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S1105R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S1105R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
GenomeConnect, ClinGen	RCV000709835	SCV000840165	not provided	Juvenile myoclonic epilepsy; Intellectual disability		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.