ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=)

gnomAD frequency: 0.00963  dbSNP: rs11062316
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079300 SCV000111170 benign not specified 2013-10-11 criteria provided, single submitter clinical testing
Invitae RCV001082905 SCV000285598 benign Long QT syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000254117 SCV000318522 benign Cardiovascular phenotype 2015-08-04 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590590 SCV000697552 benign not provided 2017-03-27 criteria provided, single submitter clinical testing Variant summary: The CACNA1C c.5604A>G (p.Gln1868Gln) variant causes a synonymous change involving a non-conserved nucleotide, which 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, the variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 335/120470 (7 homozygotes, 1/359), which significantly exceeds the estimated maximal expected allele frequency of a pathogenic CACNA1C variant of 1/100000. Therefore, suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as "likely benign/benign." Therefore, the variant of interest has been classified as Benign.
Ambry Genetics RCV000716290 SCV000847130 benign History of neurodevelopmental disorder 2015-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000590590 SCV000883534 benign not provided 2021-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000590590 SCV001945213 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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