Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002354934 | SCV001187151 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-08-21 | criteria provided, single submitter | clinical testing | The p.Y2081F variant (also known as c.6242A>T), located in coding exon 41 of the NF1 gene, results from an A to T substitution at nucleotide position 6242. The tyrosine at codon 2081 is replaced by phenylalanine, an amino acid with highly 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. |