ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2365G>C (p.Glu789Gln)

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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 RCV003337813 SCV004048139 uncertain significance Long qt syndrome 8 criteria provided, single submitter clinical testing The missense variant in c.2365G>C (p.Glu789Gln) in CACNA1C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu789Gln variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.003186% is reported in gnomAD. The amino acid Glu at position 789 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by PolyPhen2 and the residue is conserved across species. The amino acid change p.Glu789Gln in CACNA1C is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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