ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr)

dbSNP: rs80338831
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000790359 SCV000891152 pathogenic MYH9-related disorder 2018-12-12 criteria provided, single submitter research PS4, PP1_strong, PM2, PP4, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV002513293 SCV003444345 pathogenic not provided 2022-09-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp1424 amino acid residue in MYH9. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11159552, 23207509). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 38966). This missense change has been observed in individuals with MYH9-related disorders (PMID: 11776386, 16098078, 24186861, 26226608). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1424 of the MYH9 protein (p.Asp1424Tyr).
GeneReviews RCV000032224 SCV000055830 not provided Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss no assertion provided literature only
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000032224 SCV002515483 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss no assertion criteria provided research

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