ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1071dup (p.Val358fs)

dbSNP: rs2129745554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001882742 SCV002231688 pathogenic Microcephaly, normal intelligence and immunodeficiency 2021-07-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val358Serfs*9) 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).
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences RCV001648487 SCV001852745 pathogenic Ovarian carcinoma 2021-09-11 no assertion criteria provided clinical testing

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