Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000458667 | SCV000541970 | likely benign | Neurofibromatosis, type 1 | 2025-01-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002318498 | SCV000670504 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-08-22 | criteria provided, single submitter | clinical testing | The p.A2315S variant (also known as c.6943G>T), located in coding exon 46 of the NF1 gene, results from a G to T substitution at nucleotide position 6943. The alanine at codon 2315 is replaced by serine, an amino acid with similar properties. This variant has been reported in 1/1120 pediatric cancer patients who underwent whole genome sequencing and/or whole exome sequencing (Zhang J et al. N Engl J Med. 2015 Dec;373:2336-2346). This alteration was observed with an allele frequency of 0.00014 in 7,051 unselected female breast cancer patients and was observed with an allele frequency of 0.00009 in 11,241 female controls of Japanese ancestry (Momozawa Y et al. Nat Commun. 2018 10;9:4083). 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. |
| Sema4, |
RCV000574340 | SCV002530172 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-15 | criteria provided, single submitter | curation | |
| Genome- |
RCV000458667 | SCV002561022 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV004567947 | SCV005052321 | uncertain significance | Juvenile myelomonocytic leukemia | 2023-11-27 | criteria provided, single submitter | clinical testing |