Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000636743 | SCV000758184 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys385Serfs*27) in the NBN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). This variant is present in population databases (rs748513310, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with NBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 530740). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002343244 | SCV002620401 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-06-14 | criteria provided, single submitter | clinical testing | The c.1154_1155delAA pathogenic mutation, located in coding exon 10 of the NBN gene, results from a deletion of two nucleotides at nucleotide positions 1154 to 1155, causing a translational frameshift with a predicted alternate stop codon (p.K385Sfs*27). 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. |
Baylor Genetics | RCV003471998 | SCV004199690 | pathogenic | Aplastic anemia | 2023-03-04 | criteria provided, single submitter | clinical testing | |
Medical Genetics Laboratory, |
RCV001554322 | SCV001775488 | likely pathogenic | Breast carcinoma | 2021-08-09 | no assertion criteria provided | clinical testing |