Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| 3billion | RCV001808217 | SCV002058817 | pathogenic | Neurofibromatosis, type 1 | 2022-01-03 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant has been reported to be associated with NF1 related disorder (PMID:23913538).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
| Labcorp Genetics |
RCV001808217 | SCV002243822 | pathogenic | Neurofibromatosis, type 1 | 2021-03-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with neurofibromatosis type 1 (PMID: 23913538, 25541118). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1702*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). |
| Genome- |
RCV001808217 | SCV002560104 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004558656 | SCV005048289 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-08-02 | criteria provided, single submitter | clinical testing | The p.Q1702* pathogenic mutation (also known as c.5104C>T), located in coding exon 36 of the NF1 gene, results from a C to T substitution at nucleotide position 5104. This changes the amino acid from a glutamine to a stop codon within coding exon 36. This variant was identified in 1 of 565 unrelated French probands with clinical diagnoses or suspicion of NF1 (Sabbagh A et al. Hum Mutat, 2013 Nov;34:1510-8). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Baylor Genetics | RCV004571107 | SCV005052194 | pathogenic | Juvenile myelomonocytic leukemia | 2024-03-12 | criteria provided, single submitter | clinical testing | |
| Laboratory of Urology, |
RCV003332348 | SCV004040618 | pathogenic | Malignant tumor of urinary bladder | no assertion criteria provided | research |