Submissions for variant NM_001127222.2(CACNA1A):c.5468T>C (p.Leu1823Pro)

dbSNP: rs1057521706

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000487732	SCV000524128	uncertain significance	not provided	2016-08-22	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the CACNA1A gene. The L1824P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L1824P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved, and in silico analysis predicts this variant is probably 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.
CeGaT Center for Human Genetics Tuebingen	RCV000487732	SCV000575143	uncertain significance	not provided	2016-11-01	criteria provided, single submitter	clinical testing