Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023278 | SCV001185131 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-05-15 | criteria provided, single submitter | clinical testing | The c.492dupA pathogenic mutation, located in coding exon 5 of the NBN gene, results from a duplication of A at nucleotide position 492, causing a translational frameshift with a predicted alternate stop codon (p.L165Tfs*15). 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. |
Invitae | RCV003617885 | SCV004452678 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2023-04-05 | 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: 825298). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu165Thrfs*15) 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). |