Submissions for variant NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp)

gnomAD frequency: 0.00006  dbSNP: rs375955867

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000222927	SCV000272068	uncertain significance	not specified	2016-02-25	criteria provided, single submitter	clinical testing	The p.Glu1350Asp variant in MYH9 has not been previously reported in individuals with hearing loss. It has been identified in 4/66412 European chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs37 5955867). Although this variant has been seen in the general population, its fre quency is not high enough to rule out a pathogenic role. Computational predictio n tools and conservation analyses do not provide strong support for or against a n impact to the protein. In summary, the clinical significance of the p.Glu1350A sp variant is uncertain.
GeneDx	RCV001770164	SCV002003873	uncertain significance	not provided	2021-04-12	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics	RCV002503857	SCV002813489	uncertain significance	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17	2021-11-06	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001770164	SCV003817778	uncertain significance	not provided	2019-01-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001770164	SCV004274111	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing