Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001811179 | SCV002049948 | likely pathogenic | not provided | 2021-01-15 | criteria provided, single submitter | clinical testing | The Hb Petah Tikva variant (HBA1: c.332C>A; p.Ala111Asp also known as Ala110Asp when numbered from the mature protein, rs63749948) has been observed in the compound heterozygous state in multiple individuals affected with alpha thalassemia, while heterozygous individuals are described as silent carriers with no reportable symptoms (see HbVar and references therein, Gilad 2017). In addition, this variant is reported as unstable (HbVar database). This variant is also reported in ClinVar (Variation ID: 15800). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The alanine at codon 111 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.873). Based on available information, this variant is considered to be likely pathogenic. References: Link to Hb Petah Tikva https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=169&.cgifields=histD Gilad O et al. Molecular diagnosis of a-thalassemia in a multiethnic population. Eur J Haematol. 2017 Jun;98(6):553-562. |
| Fulgent Genetics, |
RCV002482880 | SCV002786319 | likely pathogenic | Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Methemoglobinemia, alpha type; Erythrocytosis, familial, 7 | 2022-04-22 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000017140 | SCV000037412 | other | HEMOGLOBIN PETAH TIKVA | 2016-07-20 | no assertion criteria provided | literature only |