ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1018-26_1033delinsAGC

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004729689 SCV005339923 likely pathogenic GATA2-related disorder 2024-06-12 no assertion criteria provided clinical testing The GATA2 c.1018-26_1033delinsAGC variant is predicted to result in a frameshift and premature protein termination (p.Ala341Profs*42). 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 GATA2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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