Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV005229811 | SCV005875378 | likely benign | not provided | 2024-05-21 | criteria provided, single submitter | clinical testing | The Hb Siam/Hb Ottawa variant (HBA1/HBA2: c.46G>C; p.Gly16Arg), also known as Gly15Arg when numbered from the mature protein, rs35816645, HbVar ID:18, ClinVar Variation ID: 15797) is reported in the heterozygous state in individuals with no clinical features with normal hematology (Huang 2011, Lou 2014, Yodsowan 2000), or whose hematological abnormality is attributed to another genetic cause (Zhao 2021). Abnormal electrophoresis results have been described for this variant (Hb Var Database). This variant is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.590). Based on available information, this variant is considered to be likely benign. References: Link to HbVar database: https://globin.bx.psu.edu/hbvar/menu.html Huang Y et al. Molecular and clinical characteristics of hemoglobin Ottawa detected in a Chinese population. Mol Med Rep. 2011 May-Jun;4(3):581-3. PMID: 21468611. Lou JW et al. Prevalence and molecular characterization of structural hemoglobin variants in the Dongguan region of Guangdong province, southern China. Hemoglobin. 2014;38(4):282-6. PMID: 24985555. Yodsowan B et al. Hb Siam (alpha15(A13)Gly-->Arg) is a GGT-->CGT mutation in the alpha1-globin gene. Hemoglobin. 2000 Feb;24(1):71-5. PMID: 10722119. Zhao RQ et al. A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family. Int J Lab Hematol. 2021 Dec;43(6):e294-e297. PMID: 33974364. |
| OMIM | RCV000017136 | SCV000037408 | other | HEMOGLOBIN OTTAWA | 2016-07-20 | no assertion criteria provided | literature only | |
| OMIM | RCV000017137 | SCV000037409 | other | HEMOGLOBIN SIAM | 2016-07-20 | no assertion criteria provided | literature only |