ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.92+2T>G (rs33956879)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759805 SCV000889380 pathogenic not provided 2018-04-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001413 SCV001158648 pathogenic not specified 2018-12-18 criteria provided, single submitter clinical testing The HBB c.92+2T>G variant (rs33956879), also known as IVS-I-2 (T>G), is reported in the HbVar database (see link to HbVar and references therein). This variant 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 disrupts the canonical splice donor site of intron 1, which is likely to disrupt gene function. Additionally, other variants at this nucleotide (c.92+2T>A, c.92+2T>C) have been reported in individuals with beta (0) thalassemia and beta thalassemia major, and are considered pathogenic (see links to HbVar and references therein). Based on available information, the IVS-I-2 (T>G) variant is considered to be pathogenic. References: Link to HbVar for IVS-1-2 (T>G): http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=821&.cgifields=histD Link to HbVar database for IVS-I-2 (T>C): http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=820 Link to HbVar database for IVS-1-2 (T>A): http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=819&.cgifields=histD
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078334 SCV001244504 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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