ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)

dbSNP: rs766602873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238488 SCV001411302 pathogenic Microcephaly, normal intelligence and immunodeficiency 2022-06-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 964295). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu617*) 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).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478747 SCV004222125 likely pathogenic not provided 2022-09-08 criteria provided, single submitter clinical testing This nonsense variant is predicted to cause the premature termination of NBN protein synthesis. The variant has not been reported in individuals with NBN-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic.

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