ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.966C>T (p.His322=) (rs112539787)

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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 RCV000618328 SCV000735380 likely benign Cardiovascular phenotype 2016-03-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Ambry Genetics RCV000719849 SCV000850720 likely benign History of neurodevelopmental disorder 2016-03-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000124070 SCV000167479 benign not specified 2012-05-07 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 RCV000317900 SCV000377776 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356206 SCV000377777 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586377 SCV000697558 benign not provided 2017-04-17 criteria provided, single submitter clinical testing Variant summary: The CACNA1C c.966C>T (p.His322His) 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. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 85/121084 control chromosomes (1 homozygote) at a frequency of 0.000702, which is approximately 70 times the estimated maximal expected allele frequency of a pathogenic CACNA1C variant (0.00001), suggesting this variant is likely a benign polymorphism. This variant has been reported in a cohort of Long QT patients with comparable MAF in controls. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
Invitae RCV000466923 SCV000562921 benign Long QT syndrome 2017-12-20 criteria provided, single submitter clinical testing

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