ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) (rs757460257)

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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 RCV000604476 SCV000731730 uncertain significance not specified 2017-07-11 criteria provided, single submitter clinical testing The p.Asp1502Gly variant in MYO7A has been previously reported in 1 individual w ith Usher syndrome; however, the individual was also reported to have 2 addition al truncating variants in MYO7A identified (Le Quesne Stabej 2012; https://grena da.lumc.nl/LOVD2/Usher_montpellier). This variant has been identified in 2/30782 South Asian chromosomes and in 1/18866 East Asian chromosomes by the Genome Agg regation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs757460257); however, its frequency is not high enough to rule out a pathogenic role. Comput ational prediction tools suggest the possible creation of a cryptic 5' splice si te; however, this information is not predictive enough to determine pathogenicit y. Additional computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of the p.Asp1502Gly variant is uncertain.
Center for Statistical Genetics, Columbia University RCV000679827 SCV000804818 pathogenic Deafness 2018-09-10 no assertion criteria provided research

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