ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.3190A>G (p.Thr1064Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004585167 SCV005073884 uncertain significance Developmental and epileptic encephalopathy, 69 criteria provided, single submitter clinical testing The observed missense variant c.3190A>G (p.Thr1064Ala) in CACNA1E gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr1064Ala variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The amino acid Thr at position 1064 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism) predict no damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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