Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233080 | SCV001405660 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2021-10-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 959688). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr493Asnfs*35) 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). |
Ambry Genetics | RCV002393580 | SCV002699536 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-02-22 | criteria provided, single submitter | clinical testing | The c.1478_1481delCACA pathogenic mutation, located in coding exon 11 of the NBN gene, results from a deletion of 4 nucleotides at nucleotide positions 1478 to 1481, causing a translational frameshift with a predicted alternate stop codon (p.T493Nfs*35). 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. |