Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003020693 | SCV003301051 | pathogenic | Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 2022-01-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with GATA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala59Leufs*82) in the GATA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GATA1 are known to be pathogenic (PMID: 16783379, 22706301, 23704091, 24453067). |
Prevention |
RCV004754915 | SCV005362710 | likely pathogenic | GATA1-related disorder | 2024-08-23 | no assertion criteria provided | clinical testing | The GATA1 c.164_174dup11 variant is predicted to result in a frameshift and premature protein termination (p.Ala59Leufs*82). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in GATA1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |