ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)

dbSNP: rs2147306077
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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 RCV001380159 SCV001578107 pathogenic Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2024-09-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr78Cysfs*60) 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). This variant has not been reported in the literature in individuals affected with GATA1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002246360 SCV002516444 pathogenic Down syndrome 2022-05-04 criteria provided, single submitter clinical testing

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