ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.5177G>A (p.Arg1726His)

gnomAD frequency: 0.00001  dbSNP: rs777701033
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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 RCV001449823 SCV001653124 uncertain significance not specified 2021-03-29 criteria provided, single submitter clinical testing The p.Arg1726His variant MYH9 has been detected by our laboratory in one individual with hearing loss, but was inherited from an unaffected parent. It has also been identified in 0.002% of (6/241052) of the total chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: none.
Fulgent Genetics, Fulgent Genetics RCV002506525 SCV002814382 uncertain significance Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 2021-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003727996 SCV004539510 benign not provided 2023-02-28 criteria provided, single submitter clinical testing

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