Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000492244 | SCV000581280 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-07-02 | criteria provided, single submitter | clinical testing | The p.S2587* pathogenic mutation (also known as c.7760C>G,c.7697C>G andp.S2566*) located in coding exon 53 of the NF1 gene, results from a C to G substitution at nucleotide position 7760. This changes the amino acid from a serine to a stop codon within coding exon 53. This mutation was detected in a72 year old who was suspected of having NF1 (Neurofibromatosistype 1), butdid not fully meet NIHdiagnosticcriteria (Griffiths S, et al.Fam. Cancer 2007 ; 6(1):21-34). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Center for Human Genetics, |
RCV000660121 | SCV000782111 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000660121 | SCV002560588 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000660121 | SCV004244506 | pathogenic | Neurofibromatosis, type 1 | 2023-11-21 | criteria provided, single submitter | clinical testing | PVS1, PS4_Supporting, PM2 |