Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002354970 | SCV001187777 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-01-19 | criteria provided, single submitter | clinical testing | The p.V2238A variant (also known as c.6713T>C), located in coding exon 44 of the NF1 gene, results from a T to C substitution at nucleotide position 6713. The valine at codon 2238 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |