ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) (rs201777030)

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Total submissions: 6
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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 RCV000171802 SCV000050809 benign not specified 2013-06-24 criteria provided, single submitter research
Invitae RCV000587387 SCV000252724 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587387 SCV000697553 benign not provided 2016-10-26 criteria provided, single submitter clinical testing Variant summary: The c.5609C>T (p.Thr1870Met) in CACNA1C gene is a missense change that involves a highly conserved nucleotide and 3/4 in silico tools predict deleterious outcome. The variant of interest is located outside of any known functional domain, although the functional impact of this missense change is yet to be studied. The variant is present in the large control population dataset of ExAC at a frequency 0.003 (359/119184 chrs tested, including 1 homozygote), which exceeds the maximal expected frequency of a pathogenic allele (0.00001) in this gene. The variant has been reported in multiple affected individuals as well as in numerous unaffected controls. Lastly, it has been reported as Benign by several reputable databases/clinical laboratories. Taken together, the variant was classified as Benign.
Ambry Genetics RCV000619639 SCV000735312 benign Cardiovascular phenotype 2016-02-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification
Ambry Genetics RCV000715870 SCV000846702 benign History of neurodevelopmental disorder 2016-02-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000587387 SCV000987658 uncertain significance not provided criteria provided, single submitter clinical testing

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