ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7485C>G (p.His2495Gln)

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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 RCV003338205 SCV004047215 uncertain significance Developmental and epileptic encephalopathy, 42 criteria provided, single submitter clinical testing The missense variant c.7485C>G (p.His2495Gln) in CACNA1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.His2495Gln variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid His at position 2495 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance

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