Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002476973 | SCV002774609 | uncertain significance | not provided | 2021-06-30 | criteria provided, single submitter | clinical testing | |
| 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 |