ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.209G>A (p.Gly70Asp) (rs34718174)

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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 RCV000757365 SCV000885558 likely benign not provided 2017-05-23 criteria provided, single submitter clinical testing The Hb Rambam variant (HBB: c.209G>A, Gly69Asp) has been reported heterozygously in multiple individuals with no associated clinical symptoms (Bisse 1998, HbVar database and references therein). It has also been found in trans with a pathogenic HBB variant in individuals, but did not contribute to their clinical symptoms (Plaseska-Karanfilska 2000). The variant is listed in ClinVar (Variation ID: 15226), and is observed once in the Genome Aggregation Database general population database (1/246190 alleles). The glycine at residue 69 is weakly conserved, and computational algorithms (Align GVGD, PolyPhen-2, SIFT) predict that the variant has no impact on the protein. Based on the above information, the variant is considered likely benign. REFERENCES Link to HbVar database for Hb Rambam: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=376 Bisse E et al. Hemoglobin Rambam (beta69[E13]Gly-->Asp), a pitfall in the assessment of diabetic control: characterization by electrospray mass spectrometry and HPLC. Clin Chem. 1998; 44(10):2172-7. Plaseska-Karanfilska D et al. Hb Rambam [beta69(E13)Gly-->Asp]/beta0-thalassemia [codon 5 (-CT)] in a family from Argentina. Hemoglobin. 2000; 24(2):157-61.
OMIM RCV000016423 SCV000036691 pathogenic not specified 2000-05-01 no assertion criteria provided literature only

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