Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193740 | SCV001362804 | uncertain significance | not specified | 2020-09-16 | criteria provided, single submitter | clinical testing | Variant summary: RAF1 c.1109-17G>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. 3/3 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 1.6e-05 in 251356 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1109-17G>C in individuals affected with Noonan Syndrome and Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. No other 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 uncertain significance. |
Gene |
RCV001566336 | SCV001789838 | likely benign | not provided | 2020-10-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002069233 | SCV002455472 | likely benign | RASopathy | 2023-11-22 | criteria provided, single submitter | clinical testing |