ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn)

gnomAD frequency: 0.00003  dbSNP: rs373503739
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551631 SCV000627584 likely benign Long QT syndrome 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621450 SCV000738021 uncertain significance Cardiovascular phenotype 2021-02-23 criteria provided, single submitter clinical testing The p.S2020N variant (also known as c.6059G>A), located in coding exon 46 of the CACNA1C gene, results from a G to A substitution at nucleotide position 6059. The serine at codon 2020 is replaced by asparagine, an amino acid with highly similar properties. This alteration was reported in a sudden unexplained death case; however, the individual was also found to harbor an ANK2 alteration and clinical details were not provided (Brion M et al. Electrophoresis, 2014 Nov;35:3111-6). This amino acid position is not 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000551631 SCV000740553 uncertain significance Long QT syndrome 2016-09-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310630 SCV001500505 uncertain significance not provided 2021-01-01 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003403259 SCV004118892 uncertain significance CACNA1C-related condition 2023-02-08 criteria provided, single submitter clinical testing The CACNA1C c.6059G>A variant is predicted to result in the amino acid substitution p.Ser2020Asn. This variant was reported in a case of sudden cardiac death; however, this individual also harbored a missense variant in the ANK2 gene (Patient #SD_2 in Table S1, Brion et al. 2014. PubMed ID: 24981977). This variant is reported in 0.010% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-2797887-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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