ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.5050C>T (p.Gln1684Ter) (rs1569534723)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778658 SCV000914991 uncertain significance MYH9-related disorder 2018-08-17 criteria provided, single submitter clinical testing The MYH9 c.5050C>T (p.Gln1684Ter) variant is a stop gained variant that is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database despite being located in a region of good sequencing coverage. Therefore, it is presumed to be rare. Based on the potential impact of truncating variants and the absence of clarifying evidence, the p.Gln1684Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for MYH9-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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