Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990168 | SCV001141013 | pathogenic | Episodic ataxia type 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001267553 | SCV001445734 | likely pathogenic | Inborn genetic diseases | 2018-09-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001368840 | SCV001565254 | pathogenic | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-01-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 803532). This missense change has been observed in individual(s) with CACNA1A-related conditions (PMID: 18940563; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 712 of the CACNA1A protein (p.Ile712Val). |