Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174994 | SCV001338487 | uncertain significance | not specified | 2020-04-20 | criteria provided, single submitter | clinical testing | Variant summary: The variant, c.769_858+8dup98 in the SOS2 gene involves the duplication of nucleotides overlapping a splice-stie. The variant was absent in 250938 control chromosomes. Several computational tools predict a significant impact on normal splicing: Four predict the variant creates a 5' donor site. However, these predictions have yet to be confirmed by functional studies. To our knowledge, no occurrence of c.769_858+8dup98 in individuals affected with Noonan Syndrome And Related Conditions 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 uncertain significance. |