ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly)

gnomAD frequency: 0.00012  dbSNP: rs374177870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631620 SCV000752702 benign Long QT syndrome 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343206 SCV002646461 uncertain significance Cardiovascular phenotype 2022-06-14 criteria provided, single submitter clinical testing The p.E1792G variant (also known as c.5375A>G), located in coding exon 42 of the CACNA1C gene, results from an A to G substitution at nucleotide position 5375. The glutamic acid at codon 1792 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002507061 SCV002815554 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-09-16 criteria provided, single submitter clinical testing

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