Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000166167 | SCV000216942 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-11-18 | criteria provided, single submitter | clinical testing | The p.E540D variant (also known as c.1620G>T), located in coding exon 14 of the NF1 gene, results from a G to T substitution at nucleotide position 1620. The glutamic acid at codon 540 is replaced by aspartic acid, 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. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position.<span style="background-color:initial">To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 110000alleles tested) in our clinical cohort.<span style="background-color:initial"><span style="background-color:initial">This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. <span style="background-color:initial">Since supporting evidence is limited at this time, the clinical significance of<span style="background-color:initial">p.E540D<span style="background-color:initial">remains unclear. |
| Labcorp Genetics |
RCV000553024 | SCV000628377 | likely benign | Neurofibromatosis, type 1 | 2024-12-18 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV000553024 | SCV002561929 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003162708 | SCV003895282 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-11-30 | 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. |
| Institute for Biomarker Research, |
RCV000166167 | SCV001977046 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-27 | no assertion criteria provided | clinical testing |