Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124098 | SCV000167507 | benign | not specified | 2013-08-04 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000124098 | SCV001363278 | benign | not specified | 2019-09-03 | criteria provided, single submitter | clinical testing | Variant summary: CACNA1C c.371+17G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: five predict the variant creates a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0023 in 274692 control chromosomes, predominantly within the African or African-American subpopulation at a frequency of 0.025, including 11 homozygotes (gnomAD). The observed variant frequency within African or African-American control individuals in the gnomAD database is well above the estimated maximal expected allele frequency for a pathogenic variant in CACNA1C causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.371+17G>A in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign. |
ARUP Laboratories, |
RCV001811999 | SCV001472955 | benign | not provided | 2020-03-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055446 | SCV002427336 | benign | Long QT syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing |