Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV002227039 | SCV002506165 | likely pathogenic | not provided | 2021-12-16 | criteria provided, single submitter | clinical testing | The Hb Milledgeville variant (HBA1: c.134C>T; p.Pro45Leu, also known as Pro44Leu when numbered from the mature protein, rs33978134) has been found heterozygous in multiple individuals with mild erythrocytosis (see link to HbVar and references therein). This variant has been reported to have increased oxygen affinity with reduced cooperativity. This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The proline at codon 45 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.544). Based on available information, this variant is considered to be likely pathogenic. References: Link to HbVar for Hb Milledgeville: https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=57&.cgifields=histD |
OMIM | RCV000017114 | SCV000037386 | other | HEMOGLOBIN MILLEDGEVILLE | 2019-11-01 | no assertion criteria provided | literature only | |
OMIM | RCV000641192 | SCV000762830 | pathogenic | Erythrocytosis, familial, 7 | 1980-12-16 | no assertion criteria provided | literature only |