ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.445del (p.His149fs) (rs1554567892)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568920 SCV000662698 pathogenic Hereditary cancer-predisposing syndrome 2019-08-27 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000636715 SCV000758155 pathogenic Microcephaly, normal intelligence and immunodeficiency 2019-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His149Thrfs*7) in the NBN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NBN-related disease. ClinVar contains an entry for this variant (Variation ID: 480026). Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985878 SCV001134512 pathogenic not provided 2019-02-05 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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