ClinVar Miner

Submissions for variant NM_021096.4(CACNA1I):c.3427G>A (p.Glu1143Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV004733993 SCV005367919 uncertain significance Congenital long QT syndrome no assertion criteria provided research The c.3322G>A missense variant in CACNA1I is reported in gnomAD with an allele count of 16 and no homozygous individuals (PM2). It occurs in a critical domain of the gene (PM1), and in silico predictions suggest a damaging effect (PP3). ACMG codes: PM1, PM2, PP3.

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