ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) (rs200241993)

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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 RCV000604529 SCV000711154 uncertain significance not specified 2018-01-25 criteria provided, single submitter clinical testing The p.Ile205Thr variant in MYO7A has not been previously reported in individuals with hearing loss, but has been identified in 0.13% (32/24016) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs200241993). Although this variant has been identified in the genera l population, its frequency is not high enough to rule out a pathogenic role. Co mputational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to det ermine pathogenicity. In summary, the clinical significance of the p.Ile205Thr v ariant is uncertain. ACMG/AMP Criteria applied: PP3.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730421 SCV000858155 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing

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