Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001283991 | SCV001469524 | uncertain significance | not provided | 2019-09-30 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV001283991 | SCV002048907 | uncertain significance | not provided | 2021-10-05 | criteria provided, single submitter | clinical testing | The Hb Caribbean variant (HBB: c.275T>G; p.Leu92Arg, also known as Leu91Arg when numbered from the mature protein, rs33917785), is reported in the literature in the heterozygous state or in combination with Hb S in individuals with mild anemia or normal hematology (see link to HbVar and references therein, Ahern 1976). In vitro functional analyses demonstrate a mildly unstable protein with decreased oxygen affinity (Ahern 1976). This variant is also reported in ClinVar (Variation ID: 15131), but is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The leucine at codon 92 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.885). However, given the limited amount of clinical and functional data, the significance of the Hb Caribbean variant is uncertain at this time. References: Link to HbVar for Hb Caribbean: https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=428 Ahern E et al. Haemoglobin caribbean beta91 (F7) Leu replaced by Arg: a mildly haemoglobin with a low oxygen affinity. FEBS Lett. 1976 Oct 15;69(1):99-102. PMID: 992050. |
| OMIM | RCV000016294 | SCV000036562 | other | HEMOGLOBIN CARIBBEAN | 2017-12-12 | no assertion criteria provided | literature only |