ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.131A>C (p.Glu44Ala) (rs35262412)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507079 SCV000603928 likely benign not specified 2019-03-18 criteria provided, single submitter clinical testing The Hb G-Galveston variant (HBB: c.131A>C; p.Glu44Ala, also known as Glu43Ala when numbered from the mature protein; rs35262412) has not been reported in association with clinical symptoms, either in a homozygous state or when found with other pathogenic beta globin variants (Edington 1955, McCurdy 1974, Michlitsch 2009, HbVar and references therein). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), but it is reported in ClinVar (Variation ID: 15173). The glutamate at codon 44 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Based on available information, the Hb G-Galveston variant is considered likely benign. References: Link to HbVar for Hb G-Galveston: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=317 Edington G et al. Characterization and genetics of haemoglobin G. Nature. 1955; 175(4463):850-1. McCurdy P et al. Hemoglobin S-G (S-D) syndrome. Am J Med. 1974; 57(4):665-70. Michlitsch J et al. Newborn screening for hemoglobinopathies in California. Pediatr Blood Cancer. 2009; 52(4):486-90.
OMIM RCV000016348 SCV000036616 other HEMOGLOBIN G (GALVESTON) 2016-07-20 no assertion criteria provided literature only
OMIM RCV000016349 SCV000036617 other HEMOGLOBIN G (PORT ARTHUR) 2016-07-20 no assertion criteria provided literature only
OMIM RCV000016350 SCV000036618 other HEMOGLOBIN G (TEXAS) 2016-07-20 no assertion criteria provided literature only

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