ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.492dup (p.Leu165fs)

dbSNP: rs1586101609
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Total submissions: 2
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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).

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