ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.7A>T (p.Lys3Ter) (rs779098734)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581960 SCV000690742 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-23 criteria provided, single submitter clinical testing
Invitae RCV000707330 SCV000836422 pathogenic Microcephaly, normal intelligence and immunodeficiency 2018-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys3*) in the NBN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs779098734, ExAC 0.01%). This variant has not been reported in the literature in individuals with NBN-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). For these reasons, this variant has been classified as Pathogenic.

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