Submissions for variant NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile)

dbSNP: rs1346036017

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000996793	SCV001151719	uncertain significance	not provided	2019-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000996793	SCV002578440	uncertain significance	not provided	2022-04-04	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002409326	SCV002721136	uncertain significance	Inborn genetic diseases	2018-04-02	criteria provided, single submitter	clinical testing	The p.V627I variant (also known as c.1879G>A), located in coding exon 14 of the CACNA1A gene, results from a G to A substitution at nucleotide position 1879. The valine at codon 627 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae	RCV002550702	SCV003334319	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2023-07-07	criteria provided, single submitter	clinical testing
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	RCV003314656	SCV004013445	uncertain significance	Developmental and epileptic encephalopathy, 42	2023-07-18	criteria provided, single submitter	clinical testing