ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.16C>T (p.Pro6Ser) (rs33912272)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283417 SCV000883988 uncertain significance none provided 2019-09-06 criteria provided, single submitter clinical testing The Hb Tyne variant (HBB: c.16C>T; p.Pro6Ser, also known as Pro5Ser when numbered from the mature protein; rs33912272) has been described in the heterozygous state in individuals with normal hematological findings (Pullon 2017, HbVar database and references therein). However, the variant has also been observed in an individual with a clinical diagnosis of beta thalassemia who also carried HbS (Keser 2010). The proline at codon 5 is weakly conserved, and computational programs (PolyPhen-2, SIFT) predict that this variant is tolerated, although isopropanol stability tests indicate this variant is slightly unstable (Pullon 2017, HbVar database). Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. References: Link to HbVar database: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=225 Keser I et al. Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey. Turk J Med Sci. 2010;40(1): 127-131. Pullon BM and Brennan SO. Two familial cases of Hb Tyne confirm instability as cause of low expression. Thalassemia Reports. 2017; 7(1).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000756240 SCV000889363 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing
OMIM RCV000016806 SCV000037076 other HEMOGLOBIN TYNE 2017-12-12 no assertion criteria provided literature only

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