ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.146T>G (p.Leu49Arg) (rs41392146)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759782 SCV000889348 uncertain significance not provided 2018-09-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286878 SCV001473499 uncertain significance none provided 2020-08-03 criteria provided, single submitter clinical testing The Hb Montgomery (HBA2: c.146T>G; p.Leu49Arg, also known as Leu48Arg when numbered from the mature protein, rs41392146), is reported in the literature in individuals with no associated clinical symptoms, and is considered a stable hemoglobin variant (Molchanova 1994, HbVar and references therein). However, the phenotype of this variant in the presence of other alpha globin variants is unknown. This variant is reported in ClinVar (Variation ID: 15637), but is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The leucine at residue 49 is moderately conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. Due to limited information, the clinical significance of the Hb Montgomery variant is uncertain at this time. References: Link to HbVar database for Hb Montgomery: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=69 Molchanova T et al. The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes. Br J Haematol. 1994 88(2):300-6.
OMIM RCV000016914 SCV000037185 other HEMOGLOBIN MONTGOMERY 2018-05-21 no assertion criteria provided literature only
OMIM RCV000016915 SCV000037186 other HEMOGLOBIN BIRMINGHAM (USA) 2018-05-21 no assertion criteria provided literature only

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