ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.164_174dup (p.Ala59fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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).
PreventionGenetics, part of Exact Sciences 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.

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