ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) (rs397517988)

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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 RCV000041749 SCV000065445 pathogenic Rare genetic deafness 2012-11-05 criteria provided, single submitter clinical testing The Ala4678fs variant in USH2A has not reported in the literature nor previously identified by our laboratory. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 4678 and lead to a prematur e termination codon 5 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this variant meets our cri teria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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