ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) (rs371626423)

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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 RCV000215016 SCV000272872 uncertain significance not specified 2015-05-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg731Gln var iant in USH1C has not been previously reported in individuals with hearing loss, but it has been identified in 7/66508 European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs371626423). Argin ine (Arg) at position 731 is conserved in mammals but not in evolutionarily dist ant species, with >10 reptiles and fish species having glutamine (Gln) at this p osition, suggesting that this variant may be tolerated. Additional computational prediction tools suggest that this variant may not impact the protein, though t his information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Arg731Gln variant is uncertain, the con servation and computational data suggests that it is more likely to be benign.
Counsyl RCV000664528 SCV000788505 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-02-24 criteria provided, single submitter clinical testing

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