ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3158-6A>G (rs397518010)

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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 RCV000041823 SCV000065519 likely pathogenic Rare genetic deafness 2018-06-21 criteria provided, single submitter clinical testing The c.3158-6A>G variant in USH2A has been reported in two individuals with Usher syndrome who were each compound heterozygous with another truncating variant in USH2A (Carss 2017, LMM unpublished data). This variant was absent from large p opulation databases. Splice prediction tools suggest that this variant may disru pt the native 3' splice site and produce a new splice site 5 base pairs upstream , which would result on a frameshift. In summary, although additional studies ar e required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP criteria applied: PM3_Strong, PM2, PP3, PP4.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505082 SCV000598805 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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