ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6639del (p.Lys2213fs) (rs876657732)

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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 RCV000217100 SCV000271473 pathogenic Rare genetic deafness 2016-02-26 criteria provided, single submitter clinical testing The p.Lys2213fs variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome in any other family or in large population studies. This variant is predicted to cause a frameshift, which alters the prote in?s amino acid sequence beginning at position 2213 and leads to a premature ter mination codon 16 amino acids downstream. This alteration is then predicted to l ead to a truncated or absent protein. Loss of function of the USH2A gene is an e stablished disease mechanism in Usher syndrome. In summary, this variant meets c riteria to be classified as pathogenic for autosomal recessive Usher syndrome ba sed on the predicted impact of the variant on the protein.

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