ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr)

dbSNP: rs1405730457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001261918 SCV001439248 uncertain significance Gray platelet syndrome 2020-03-01 criteria provided, single submitter research ACMG criteria: PM2, PP3, PP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699244 SCV005205391 uncertain significance not specified 2024-06-03 criteria provided, single submitter clinical testing Variant summary: NBEAL2 c.7501C>T (p.His2501Tyr) results in a conservative amino acid change located in the Neurobeachin, beta-propeller domain (IPR046851) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 1608878 control chromosomes (gnomAD v4.1). c.7501C>T has been reported in the literature in an individual affected with Gray Platelet Syndrome (Sims_2020). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 32693407). ClinVar contains an entry for this variant (Variation ID: 982291). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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