ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg) (rs771889662)

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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 RCV000616248 SCV000712413 uncertain significance not specified 2016-09-01 criteria provided, single submitter clinical testing The p.Gly1660Arg variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 1/8622 East As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs771889662). Computational prediction tools and conservation a nalysis suggest that this variant may impact the protein, though this informatio n is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly1660Arg variant is uncertain.
GenomeConnect, ClinGen RCV001249570 SCV001423539 not provided Usher syndrome type 1 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 09-01-2016 by Lab or GTR ID 21766. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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