ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.842T>G (rs786205135)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000170447 SCV000253874 pathogenic Microcephaly, normal intelligence and immunodeficiency 2015-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 281 (p.Leu281*). It is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in NBN are known to be pathogenic (PMID: 9590180, 16415040). For these reasons, this variant has been classified as Pathogenic.
Color RCV000772328 SCV000905478 pathogenic Hereditary cancer-predisposing syndrome 2015-10-07 criteria provided, single submitter clinical testing
Innovations Lab, Hyderabad,Tata Consultancy Services Ltd RCV000170447 SCV000196640 pathogenic Microcephaly, normal intelligence and immunodeficiency no assertion criteria provided research Exome sequencing of DNA from an infant and his parents was performed. Genomic analysis revealed deleterious variants in the NBN gene. Confirmatory testing included Sanger sequencing and immunoblotting and radiosensitivity testing of patient lymphocytes.

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