ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) (rs192749597)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619661 SCV000735455 benign Cardiovascular phenotype 2016-07-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Insufficient or conflicting evidence
Ambry Genetics RCV000715633 SCV000846463 benign History of neurodevelopmental disorder 2016-07-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Insufficient or conflicting evidence
GeneDx RCV000124095 SCV000167504 benign not specified 2013-10-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000300845 SCV000377896 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355697 SCV000377897 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588907 SCV000697551 benign not provided 2016-09-07 criteria provided, single submitter clinical testing Variant summary: The CACNA1C c.5360C>T (p.Thr1787Met) variant involves the alteration of a conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 126/107256 control chromosomes (one homozygote), predominantly observed in the African subpopulation at a frequency of 0.0161245 (115/7132). This frequency is about 1612 times the estimated maximal expected allele frequency of a pathogenic CACNA1C variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. This variant has been reported in three patients with arrhythmia in literature (Burashnikov_2010, Steffensen_2015, Wemhoner_2015), however without evidence for pathogenicity. One of the patients also carried a truncating variant in other gene, AKAP9 p.Thr3473AsnfsX3. Multiple clinical diagnostic laboratories have classified this variant as benign. Taken together, this variant is classified as Benign.
Invitae RCV000231476 SCV000285595 benign Long QT syndrome 2017-12-30 criteria provided, single submitter clinical testing

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