ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) (rs33990858)

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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 RCV001001871 SCV001159593 likely benign not specified 2018-11-28 criteria provided, single submitter clinical testing The HBB c.238G>T; Asp79Tyr variant (rs33990858), also known as Hb Tampa, is reported in the literature in a homozygous individual and his heterozygous parents, all of whom are reported to have unremarkable clinical histories (HbVar database and references therein). This variant is reported in ClinVar (Variation ID: 15371), but it is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The aspartate at codon 79 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious, though these are low-confidence predictions. Based on available information, Hb Tampa is considered to be likely benign. References: Link to HbVar for Hb Tampa: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=399
OMIM RCV000016623 SCV000036892 other HEMOGLOBIN TAMPA 2017-12-12 no assertion criteria provided literature only

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