ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) (rs782350886)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218120 SCV000272160 uncertain significance not specified 2015-05-04 criteria provided, single submitter clinical testing The p.Arg1164Gln variant in MYO7A has not been previously reported in individual s with hearing loss but has been identified in 1/33394 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computat ional prediction tools and conservation analyses suggest that the p.Arg1164Gln v ariant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg11 64Gln variant is uncertain.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626210 SCV000746854 likely pathogenic Usher syndrome, type 1 2017-12-18 criteria provided, single submitter clinical testing
Counsyl RCV000667161 SCV000791568 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-05-12 criteria provided, single submitter clinical testing

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