Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659991 | SCV000781913 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000659991 | SCV002165119 | pathogenic | Neurofibromatosis, type 1 | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln514*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 25541118). ClinVar contains an entry for this variant (Variation ID: 547594). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000659991 | SCV002561673 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002397340 | SCV002705892 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2017-02-08 | criteria provided, single submitter | clinical testing | The p.Q514* pathogenic mutation (also known as c.1540C>T), located in coding exon 14 of the NF1 gene, results from a C to T substitution at nucleotide position 1540. This changes the amino acid from a glutamine to a stop codon within coding exon 14. 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. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724121 | SCV001958777 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001724121 | SCV001974385 | pathogenic | not provided | no assertion criteria provided | clinical testing |