Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319167 | SCV001172858 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-05-20 | criteria provided, single submitter | clinical testing | The p.H537Q variant (also known as c.1611C>A), located in coding exon 14 of the NF1 gene, results from a C to A substitution at nucleotide position 1611. The histidine at codon 537 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |