ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) (rs372768607)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155242 SCV000204928 uncertain significance not specified 2014-04-11 criteria provided, single submitter clinical testing The Arg1832Gln variant in MYO7A has not been previously reported in individuals with hearing loss, but has been identified in 0.07% (3/4216) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/). Computational analyses (biochemical amino acid properties, conservation , AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against a n impact to the protein. In summary, the clinical significance of the Arg1832Gln variant is uncertain.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477766 SCV000536771 uncertain significance Deafness, autosomal dominant 11 2015-09-21 no assertion criteria provided research

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