ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.220A>G (p.Lys74Glu)

dbSNP: rs1603484048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000790349 SCV000891142 likely pathogenic MYH9-related disorder 2018-12-12 criteria provided, single submitter research PS4_supporting, PM2, PP4, PP3
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245639 SCV002515668 likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558559 SCV004298870 likely pathogenic not provided 2023-08-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYH9 protein function. ClinVar contains an entry for this variant (Variation ID: 623105). This missense change has been observed in individuals with clinical features of MYH9-related conditions (PMID: 26382273, 28983057, 31562665, 32581362, 33718801; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 74 of the MYH9 protein (p.Lys74Glu).

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