ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.2T>C (p.Met1Thr)

dbSNP: rs587776451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382885 SCV001581841 pathogenic Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2023-02-18 criteria provided, single submitter clinical testing Experimental studies have shown that disruption of the initiator codon affects GATA1 function (PMID: 20729467, 24952648). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 156265). Disruption of the initiator codon has been observed in individual(s) with Diamond-Blackfan anemia (PMID: 24453067, 24952648, 29146883). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the GATA1 mRNA. The next in-frame methionine is located at codon 84. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000144252 SCV000189410 not provided Thrombocytopenia, X-linked, with or without dyserythropoietic anemia no assertion provided literature only Obliterates initiation codon; alternative initiation Met84 residue is used, resulting in lack of full length cDNA
OMIM RCV000754842 SCV000882721 pathogenic X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 2014-07-01 no assertion criteria provided literature only

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