Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Biesecker Lab/Clinical Genomics Section, |
RCV000170875 | SCV000050662 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
| Gene |
RCV000185501 | SCV000223430 | benign | not specified | 2018-03-09 | 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 | RCV001079557 | SCV000647064 | benign | Brugada syndrome 4 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000170875 | SCV000700053 | likely benign | not provided | 2017-05-22 | criteria provided, single submitter | clinical testing | Variant summary: The CACNB2 c.1534G>A (p.Ala512Thr) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in the large control database ExAC in 99 of 121336 control chromosomes (1 homozygote) of all ethnicities, but was predominantly observed in the South Asian subpopulation at a frequency of 0.005088 (84/16510; 1 homozygote). This frequency is about 509 times the estimated maximal expected allele frequency of a pathogenic CACNB2 variant (0.00001), providing strong evidence this is likely a benign polymorphism found primarily in the populations of South Asian origin. Two clinical diagnostic laboratories/reputable databases have classified this variant as one of uncertain significance, though one was submitted prior to the release of the ExAC database. Taken together, this variant is classified as likely benign. |
| Ambry Genetics | RCV002399605 | SCV002706687 | likely benign | Cardiovascular phenotype | 2018-07-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |