ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) (rs199473392)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000170829 SCV000050654 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000170829 SCV000223384 uncertain significance not provided 2015-06-16 criteria provided, single submitter clinical testing The D2130N variant in the CACNA1C gene has been reported in association with Brugada syndrome (Burashnikov E et al., 2010). This study identified D2130N in one individual with Brugada syndrome who also harbored a mutation in the KCNE2 gene. D2130N is located in the C-terminal region of the protein at a position that is highly conserved and it was not observed in at least 400 control alleles (Burashnikov E et al., 2010). Nevertheless, no proven pathogenic mutations have been reported in this region of the protein (Stenson et al., 2014). Based on the available molecular the clinical significance of the D2130N variant in the CACNA1C gene remains unknown.
Invitae RCV001089169 SCV000752825 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000678917 SCV000805123 uncertain significance Timothy syndrome 2017-11-23 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058290 SCV000089810 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:20817017). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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