ClinVar Miner

Submissions for variant NM_007123.5(USH2A):c.4129_4130TC[4] (p.Asn1379fs) (rs397518015)

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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 RCV000041838 SCV000065534 pathogenic Rare genetic deafness 2011-09-17 criteria provided, single submitter clinical testing The Asn1379fs variant in USH2A has not been reported in the literature nor previ ously identified by our laboratory. The Asn1379fs variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1379 and leads to a premature stop codon 54 codons downstream. This alteration i s then predicted to lead to a truncated or absent protein. In summary, this vari ant meets our criteria to be classified as pathogenic.
National Institute on Deafness and Communication Disorders,National Institutes of Health RCV001199964 SCV001370761 pathogenic Usher syndrome, type 2A 2019-12-10 no assertion criteria provided research

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