ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7133A>C (p.Glu2378Ala)

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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 RCV004723735 SCV005329523 uncertain significance Developmental and epileptic encephalopathy, 42 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.7133A>C(p.Glu2378Ala) variant in CACNA1A gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Glu2378Ala variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Computational evidences (SIFT - Tolerated and MutationTaster - Disease causing) predict conflicting evidence on protein structure and function for this variant. The amino acid change p.Glu2378Ala in CACNA1A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Glu at position 2378 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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