ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5001dup (p.Gly1668fs) (rs397518018)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041852 SCV000065548 pathogenic Rare genetic deafness 2013-03-11 criteria provided, single submitter clinical testing The Gly1668fs variant in USH2A has not been reported in the literature nor previ ously identified by our laboratory. This frameshift variant is predicted to alte r the protein?s amino acid sequence beginning at position 1668 and lead to a pre mature termination codon 30 amino acids downstream. This alteration is then pred icted to lead to a truncated or absent protein. Therefore, this variant meets ou r criteria to be classified as pathogenic (

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