ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.155del (p.Pro52fs) (rs63750128)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756243 SCV000883993 pathogenic not provided 2018-03-12 criteria provided, single submitter clinical testing The HBB c.155delC; Pro51fs variant (rs63750128) has been reported in at least one individual presenting with hematological data consistent with beta zero-thalassemia heterozygosity (Ringelhann 1993). It is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant creates a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered pathogenic. References: Link to HbVar: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=858&.cgifields=histD Ringelhann B et al. Molecular characterization of beta-thalassemia in Hungary. Hum Genet. 1993 Oct;92(4):385-7.

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