ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter)

dbSNP: rs1553663498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500436 SCV000595903 pathogenic Gray platelet syndrome 2016-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403169 SCV004103969 pathogenic NBEAL2-related disorder 2023-09-29 criteria provided, single submitter clinical testing The NBEAL2 c.4081G>T variant is predicted to result in premature protein termination (p.Glu1361*). This variant has been reported in the compound heterozygous state in an individual with Grey platelet syndrome (Sims et al. 2020. PubMed ID: 32693407. Supplement file 2). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in NBEAL2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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