Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234251 | SCV000284391 | likely benign | Neurofibromatosis, type 1 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311333 | SCV000662949 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-10-20 | criteria provided, single submitter | clinical testing | The p.G57S variant (also known as c.169G>A), located in coding exon 2 of the NF1 gene, results from a G to A substitution at nucleotide position 169. The glycine at codon 57 is replaced by serine, 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. |
Center for Human Genetics, |
RCV000234251 | SCV000781861 | uncertain significance | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765342 | SCV000896606 | uncertain significance | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV003491998 | SCV001140333 | likely benign | Hereditary cancer | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000996514 | SCV001151252 | uncertain significance | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000996514 | SCV002008411 | uncertain significance | not provided | 2023-09-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36373817) |
Sema4, |
RCV000564586 | SCV002527411 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-22 | criteria provided, single submitter | curation | |
Genome- |
RCV000234251 | SCV002561414 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000996514 | SCV002774827 | uncertain significance | not provided | 2021-08-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004547596 | SCV004115834 | uncertain significance | NF1-related disorder | 2022-09-01 | criteria provided, single submitter | clinical testing | The NF1 c.169G>A variant is predicted to result in the amino acid substitution p.Gly57Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-29483109-G-A). It is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/237522/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |