Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000217495 | SCV000278760 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-10-06 | criteria provided, single submitter | clinical testing | The p.P2567L variant (also known as c.7700C>T), located in coding exon 52 of the NF1 gene, results from a C to T substitution at nucleotide position 7700. The proline at codon 2567 is replaced by leucine, an amino acid with somewhat 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. To date, this alteration has been detected with an allele frequency of approximately X.002% (greater than 55000alleles tested) in our clinical cohort.This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and yet tolerated by PolyPhen and SIFT in silico analyses, respectively.Since supporting evidence is limited at this time, the clinical significance of pP2567Lremains unclear. |
| Labcorp Genetics |
RCV000660118 | SCV000836245 | likely benign | Neurofibromatosis, type 1 | 2024-11-30 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV002509324 | SCV002818946 | uncertain significance | not provided | 2022-07-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365) |
| St. |
RCV000660118 | SCV004031120 | uncertain significance | Neurofibromatosis, type 1 | 2024-10-04 | criteria provided, single submitter | clinical testing | The NF1 c.7637C>T (p.Pro2546Leu) missense change has a maximum subpopulation frequency of 0.012% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but this prediction has not been confirmed by functional studies. This variant has not been reported in individuals with neurofibromatosis type 1. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance. |
| Ambry Genetics | RCV004558581 | SCV005048614 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-03-19 | criteria provided, single submitter | clinical testing | The c.7637C>T (p.P2546L) alteration is located in exon 51 (coding exon 51) of the NF1 gene. This alteration results from a C to T substitution at nucleotide position 7637, causing the proline (P) at amino acid position 2546 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Center for Human Genetics, |
RCV000660118 | SCV000782108 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | flagged submission | clinical testing |