Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002346216 | SCV001179067 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-10-08 | criteria provided, single submitter | clinical testing | The c.-2A>G variant is located in the 5' untranslated region (5’ UTR) of the NF1 gene. This variant results from an A to G substitution 2 bases upstream from the first translated codon. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |