Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000130125 | SCV000184957 | uncertain significance | Hereditary cancer-predisposing syndrome | 2014-03-06 | criteria provided, single submitter | clinical testing | The p.M2579I variant (also known as c.7737G>A), located in coding exon 52 of the NF1 gene, results from a G to A substitution at nucleotide position 7737. The methionine at codon 2579 is replaced by isoleucine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be benign and tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.M2579I remains unclear. |
| Ambry Genetics | RCV004992011 | SCV005454544 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2024-12-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |