Submissions for variant NM_001205293.3(CACNA1E):c.2105C>T (p.Ala702Val)

dbSNP: rs1654707104

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198641	SCV001369635	uncertain significance	Developmental and epileptic encephalopathy, 69	2020-03-13	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV004697067	SCV005197366	likely pathogenic	not provided	2023-04-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV005306301	SCV005975046	likely pathogenic	Inborn genetic diseases	2024-12-23	criteria provided, single submitter	clinical testing	The c.2105C>T (p.A702V) alteration is located in exon 17 (coding exon 17) of the CACNA1E gene. This alteration results from a C to T substitution at nucleotide position 2105, causing the alanine (A) at amino acid position 702 to be replaced by a valine (V). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant was determined to be de novo in at least one individual with features consistent with CACNA1E-related neurodevelopmental disorder (Royer-Bertrand, 2021). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.