ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) (rs80338826)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523446 SCV000617833 pathogenic not provided 2017-09-28 criteria provided, single submitter clinical testing The R702C variant in the MYH9 gene has been reported previously in association with MYH9-related disorder, including as an apparently de novo variant in one individual (Seri et al., 2000; Heath et al., 2001; Seri et al., 2003). The R702C variant is not observed in large population cohorts (Lek et al., 2016). The R702C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and is within the myosin motor domain. Studies of mice heterozgyous for R702C show macrothrombocytopenia, impaired proplatelet formation, and the mice displayed albuminuria, glomerulosclerosis, and sensory hearing loss (Zhang et al., 2012; Suzuki et al., 2013). We interpret R702C as a pathogenic variant.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000790354 SCV000891147 pathogenic MYH9-related disorder 2018-12-12 criteria provided, single submitter research PS4, PS3, PM2, PP4, PP3
Mendelics RCV000015129 SCV001141419 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000015129 SCV000035383 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2003-05-01 no assertion criteria provided literature only
GeneReviews RCV000015129 SCV000055822 pathologic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2011-04-05 no assertion criteria provided curation Converted during submission to Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000015129 SCV000863836 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2018-03-20 no assertion criteria provided clinical testing

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