ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.82_84del (p.Ser28del)

dbSNP: rs775050403
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690089 SCV000817766 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-09-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 569458). This variant, c.82_84del, results in the deletion of 1 amino acid(s) of the RUNX1 protein (p.Ser28del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs775050403, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with RUNX1-related conditions.
Baylor Genetics RCV003465573 SCV004209876 uncertain significance Acute myeloid leukemia 2023-01-26 criteria provided, single submitter clinical testing

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