ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.935T>A (p.Leu312Ter) (rs371480039)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000544042 SCV000924455 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2019-01-01 criteria provided, single submitter research
Invitae RCV000544042 SCV000634333 pathogenic Microcephaly, normal intelligence and immunodeficiency 2017-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 312 (p.Leu312*) of the NBN gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, 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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