ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.251G>A (p.Gly84Asp) (rs1803195)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001839 SCV001159534 likely benign not specified 2018-11-07 criteria provided, single submitter clinical testing The Hb Pyrgos variant (HBB c.251G>A; p.Gly84Asp, also known as Gly83Asp when numbered from the mature protein) (rs1803195) is a stable hemoglobin variant (Tatsis 1976) and has been reported in asymptomatic individuals in trans to Hb E and Hb S (Tatsis 1976, Sawangareetrakul 2002, HbVar database and references therein). This variant is reported in ClinVar (Variation ID: 15320) and is found on a single chromosome in the Genome Aggregation Database. The glycine at residue 84 is highly conserved, but computational algorithms (Align GV/GD, Mutation Taster, PolyPhen-2, SIFT) are inconclusive on the variant's impact on the protein. Based on available information, the Hb Pyrgos variant is considered to be likely benign. References: Link to HbVar database for Hb Pyrgos: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=411 Sawangareetrakul P et al. Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia. Hemoglobin. 2002 May;26(2):191-6. Tatsis B et al. Hemoglobin pyrgos alpha2 beta2 83 (EF7) Gly leads to Asp: a new hemoglobin variant in double heterozygosity with hemoglobin S. Blood. 1976 May;47(5):827-32.
OMIM RCV000016560 SCV000036828 other HEMOGLOBIN PYRGOS 2017-12-12 no assertion criteria provided literature only

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