Submissions for variant NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)

gnomAD frequency: 0.00083  dbSNP: rs111606207

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000250335	SCV000319732	likely benign	Cardiovascular phenotype	2015-05-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga)	RCV000176619	SCV000335710	uncertain significance	not provided	2015-09-29	criteria provided, single submitter	clinical testing
Invitae	RCV001082496	SCV000562877	benign	Long QT syndrome	2024-01-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001358770	SCV001554642	benign	not specified	2021-03-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000176619	SCV001747639	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BP7, BS1
GeneDx	RCV000176619	SCV001883300	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224191	SCV003919753	likely benign	Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	2022-07-25	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF: 0.4% [41/10356] including 2 total homozygotes; https://gnomad.broadinstitute.org/variant/12-2716174-C-T?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:195932). Of note, this variant is a silent variant and does not change the amino acid, is not predicted to impact splicing, and this nucleotide position is poorly conserved evolutionarily, reducing the probability that this variant is disease-causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
Clinical Genetics, Academic Medical Center	RCV001358770	SCV001921088	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001358770	SCV001969103	benign	not specified		no assertion criteria provided	clinical testing