Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002346228 | SCV001186913 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-09-03 | criteria provided, single submitter | clinical testing | The p.M2010I variant (also known as c.6030G>A), located in coding exon 40 of the NF1 gene, results from a G to A substitution at nucleotide position 6030. The methionine at codon 2010 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |