ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1332dup (p.Arg445Ter)

dbSNP: rs1586058444
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Total submissions: 2
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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.

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