ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1785C>T (p.His595=)

gnomAD frequency: 0.00879  dbSNP: rs61733967
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124110 SCV000167519 benign not specified 2014-01-16 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.
Invitae RCV000206606 SCV000259569 benign Brugada syndrome 4 2024-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000585972 SCV000700054 benign not provided 2016-01-13 criteria provided, single submitter clinical testing Variant summary: The c.1623C>T variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 5/5 in silico tools via Alamut predict no significant effect on splicing. This variant is found in 317/121328 control chromosomes (5 homozygotes) at a frequency of 0.0026128, which is about 261 times of maximal expected frequency of a pathogenic allele (0.00001), suggesting this variant is benign. In addition, one clinical laboratory classified this variant as benign. The variant of interest has been found in one individual with co-occurrence of KCNQ1 c.674C>T/p.S225L (pathogenic) in our laboratory. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/other clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as benign.
Ambry Genetics RCV000620127 SCV000735235 benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000206606 SCV000743846 benign Brugada syndrome 4 2016-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000206606 SCV002798036 likely benign Brugada syndrome 4 2022-02-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975099 SCV004798712 benign CACNB2-related condition 2019-05-03 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000124110 SCV001920457 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.