Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000157809 | SCV000207739 | benign | not specified | 2014-06-17 | 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, |
RCV000157809 | SCV001337945 | benign | not specified | 2020-01-13 | criteria provided, single submitter | clinical testing | Variant summary: BRAF c.608+19G>C 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. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00029 in 250358 control chromosomes, predominantly at a frequency of 0.00058 within the Non-Finnish European subpopulation in the gnomAD database. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 232-fold the estimated maximal expected allele frequency for a pathogenic variant in BRAF causing Noonan Syndrome and Related Conditions phenotype (2.5e-06), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. To our knowledge, no occurrence of c.608+19G>C in individuals affected with Noonan Syndrome and Related Conditions and no experimental evidence demonstrating an mpact 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, |
RCV001812136 | SCV002050214 | likely benign | not provided | 2021-05-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002053904 | SCV002364314 | likely benign | RASopathy | 2024-01-31 | criteria provided, single submitter | clinical testing |