ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9401G>A (p.Arg3134Gln) (rs780020144)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724828 SCV000230807 uncertain significance not provided 2015-05-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000178681 SCV000732012 uncertain significance not specified 2017-11-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg3134 varia nt in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.16% (56/34328) of Latino chromosom es by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/ ; dbSNP rs780020144). Although this variant has been seen in the general populat ion, its frequency is not high enough to rule out a pathogenic role. Computation al prediction tools and conservation analysis suggest that the p.Arg3134Gln vari ant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p .Arg3134Gln variant is uncertain, these data suggest that it is more likely to b e benign. ACMG/AMP Criteria applied: BP4.

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