Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000568906 | SCV000666527 | uncertain significance | Hereditary cancer-predisposing syndrome | 2016-04-18 | criteria provided, single submitter | clinical testing | The p.K591Q variant (also known as c.1771A>C), located in coding exon 11 of the NBN gene, results from an A to C substitution at nucleotide position 1771. The lysine at codon 591 is replaced by glutamine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 120000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005044844 | SCV005674434 | uncertain significance | Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia | 2024-06-13 | criteria provided, single submitter | clinical testing |