ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln)

gnomAD frequency: 0.00001  dbSNP: rs727503285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151328 SCV000199298 uncertain significance not specified 2013-10-05 criteria provided, single submitter clinical testing The Arg1483Gln variant in MYH9 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg1483Gln variant may impact the protein, though this information is not predic tive enough to determine pathogenicity. In summary, additional data is needed to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516038 SCV003004162 likely benign not provided 2022-08-10 criteria provided, single submitter clinical testing
GeneDx RCV002516038 SCV005078889 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in a patient with a neurodevelopmental disorder in published literature and reported as p.(R1504Q) using an alternate reference sequence (Wang et al., 2020); This variant is associated with the following publications: (PMID: 33004838)

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