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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