ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1381C>T (p.Pro461Ser)

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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 RCV003338139 SCV004047089 uncertain significance Long qt syndrome 8 criteria provided, single submitter clinical testing The missense variant c.1381C>T (p.Pro461Ser) in CACNA1C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Proline at position 461 is changed to a Serine changing protein sequence and it might alter its composition and physico-chemical properties. The residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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