ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.2226_2234+4del (rs1563497529)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690766 SCV000818492 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2018-04-17 criteria provided, single submitter clinical testing This sequence change removes the last 9 nucleotides of exon 15, and affects a donor splice site in intron 15 of the NBN gene. It is expected to disrupt RNA splicing and/or create a premature translational stop signal, and likely results 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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