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 RCV000756240 SCV000883988 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing The Hb Tyne (HBB: c.16C>T;Pro5Ser) variant (rs33912272) has been described in the heterozygous state in individuals with normal hematological findings (see link to 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 not well conserved across mammals and computational programs (PolyPhen2, SIFT) predict that this variant is tolerated. Additionally, other variants at this codon (Pro5Ala/Arg/Leu) have also been reported in the heterozygous state in individuals with normal hematological findings (see link to HbVar database and references therein). 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 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.
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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