ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)

dbSNP: rs398124628
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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 RCV001851786 SCV002243141 pathogenic Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2021-10-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GATA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 10429). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ala59Glnfs*85) 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). This variant is not present in population databases (gnomAD no frequency).
OMIM RCV000011174 SCV000031401 pathogenic Acute megakaryoblastic leukemia 2004-04-15 no assertion criteria provided literature only

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