Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319232 | SCV001176445 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-10-10 | criteria provided, single submitter | clinical testing | The p.H819Y variant (also known as c.2455C>T), located in coding exon 21 of the NF1 gene, results from a C to T substitution at nucleotide position 2455. The histidine at codon 819 is replaced by tyrosine, 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. |