Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817450 | SCV000958011 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2023-08-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg445*) 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 not present in population databases (gnomAD no frequency). 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: 660286). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002381840 | SCV002692612 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | The c.1332dupT variant, located in coding exon 10 of the NBN gene, results from a duplication of T at nucleotide position 1332, causing a translational frameshift with a predicted alternate stop codon (p.R445*). 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. |