ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) (rs11062316)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000590590 SCV000883534 benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000254117 SCV000318522 benign Cardiovascular phenotype 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
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079300 SCV000111170 benign not specified 2013-10-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292420 SCV000377910 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338028 SCV000377911 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.
Invitae RCV000231938 SCV000285598 benign Long QT syndrome 2017-12-26 criteria provided, single submitter clinical testing

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