ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.4354GAG[1] (p.Glu1453del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447758 SCV004175469 likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2021-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003669422 SCV004386755 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. This variant has been observed in individual(s) with May-Hegglin anomaly (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.4357_4359del, results in the deletion of 1 amino acid(s) of the MYH9 protein (p.Glu1453del), but otherwise preserves the integrity of the reading frame.

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