ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val)

dbSNP: rs1568514116
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Total submissions: 3
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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).

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