Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985737 | SCV001134213 | likely pathogenic | not provided | 2022-09-18 | criteria provided, single submitter | clinical testing | It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, individuals heterozygous for this variant present with chronic mild hemolytic anemia (PMID: 35898763 (2022), 7928379 (1994), 3583764 (1987), 5791730 (1969)). In a functional study, this variant exhibited minor alterations in function in an assay that evaluated oxidation and reduction rates (PMID: 7407240 (1980)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, this variant is classified as likely pathogenic. |
OMIM | RCV000016390 | SCV000036658 | pathogenic | Hemoglobinopathy | 1971-04-27 | no assertion criteria provided | literature only |