ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) (rs563090568)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124087 SCV000167496 benign not specified 2013-03-28 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 RCV000285188 SCV000377870 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340013 SCV000377871 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000588823 SCV000627551 benign not provided 2018-10-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588823 SCV000697548 benign not provided 2016-12-05 criteria provided, single submitter clinical testing Variant summary: The CACNA1C c.4659C>T (p.Asp1553Asp) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 27/120922 control chromosomes, exclusively observed in the East Asian subpopulation at a frequency of 0.0031228 (27/8646). This frequency is about 312 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 East Asian origin. In addition, one clinical diagnostic laboratory/reputable database has classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000588823 SCV000701656 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617383 SCV000736473 likely benign Cardiovascular phenotype 2017-03-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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