ClinVar Miner

Submissions for variant NM_001127180.1(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
Counsyl RCV000667161 SCV000791568 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-05-12 criteria provided, single submitter clinical testing
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
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 individuals with hearing loss but has been identified in 1/33394 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computational prediction tools and conservation analyses suggest that the p.Arg1164Gln variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg1164Gln variant is uncertain.

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