Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002770082 | SCV003024230 | pathogenic | Neurofibromatosis, type 1 | 2023-07-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser2528*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1983108). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Baylor Genetics | RCV003464597 | SCV004190791 | likely pathogenic | Juvenile myelomonocytic leukemia | 2022-08-11 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004559971 | SCV005048797 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-06-14 | criteria provided, single submitter | clinical testing | The p.S2528* variant (also known as c.7583C>G), located in coding exon 51 of the NF1 gene, results from a C to G substitution at nucleotide position 7583. This changes the amino acid from a serine to a stop codon within coding exon 51. This alteration has been observed in at least one individual with a personal and/or family history that is consistent with NF1-related disease (Ambry internal data). 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. |