ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.193G>A (p.Val65Met) (rs377348805)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765636 SCV000896964 uncertain significance Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Deafness, autosomal dominant nonsyndromic sensorineural 17 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000610555 SCV000711123 uncertain significance not specified 2016-06-20 criteria provided, single submitter clinical testing The p.Val65Met variant in MYH9 has been previously reported in 1 individual with hearing loss (Vona 2014), but it has also been identified in 19/66730 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs377348805). Computational prediction tools and conservation analy ses suggest that this variant may not impact the protein, though this informatio n is not predictive enough to rule out pathogenicity. In summary, the clinical s ignificance of the p.Val65Met variant is uncertain.

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