ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.277A>G (p.Asn93Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280940 SCV002569201 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690281 SCV005185318 uncertain significance not specified 2024-05-08 criteria provided, single submitter clinical testing Variant summary: MYH9 c.277A>G (p.Asn93Asp) results in a conservative amino acid change located in the Myosin head, motor domain (IPR001609) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251446 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.277A>G has been reported in the literature in an individual affected with chronic macrothrombocytopenia, suspected of having a MYH9-related disorder (Saposnik_2014). This report does not provide unequivocal conclusions about association of the variant with Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 1703781). Based on the evidence outlined above, the variant was classified as uncertain significance.

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