ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs) (rs397517964)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668813 SCV000793477 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-08-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000276776 SCV000335427 pathogenic not provided 2015-10-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041664 SCV000065360 pathogenic Rare genetic deafness 2011-08-26 criteria provided, single submitter clinical testing The Lys3397fs variant in USH2A has been reported in 1 proband with Usher syndrom e type 2 (Sandberg, 2008; McGee 2010). The Lys3397fs variant is predicted to cau se a frameshift, which alters the protein's amino acid sequence beginning at cod on 3397 and leads to a premature stop codon 20 codons downstream. This alteratio n is then predicted to lead to a truncated or absent protein. In summary, this v ariant meets our criteria to be classified as pathogenic.

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