ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.123G>T (p.Arg41Ser) (rs33918778)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507602 SCV000601239 uncertain significance not specified 2017-01-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756236 SCV000883984 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing The Hb Austin variant (HBB: c.123G>T, Arg40Ser) (rs33918778) has been reported in three unrelated individuals of Mexican ancestry with no clinical symptoms (HbVar and references therein). Functional characterization indicate that the variant hemoglobin has normal Bohr effect, increased oxygen affinity, reduced cooperativity, and found to dissociate into oxyHb dimers (HbVar and references therein). The c.123G>T variant is reported in ClinVar (Variation ID: 439134). It is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The arginine at residue 40 is highly conserved, and computational algorithms (SIFT, PolyPhen2) predict that the variant has an impact on the protein. Due to the limited information regarding this variant, its clinical significance cannot be determined at this time. REFERENCES Link to HbVar database for Hb Austin:

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