ClinVar Miner

Submissions for variant NM_007123.5(USH2A):c.1803del (p.Gly602fs) (rs1553327452)

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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 RCV000596173 SCV000709746 pathogenic Usher syndrome 2018-03-07 criteria provided, single submitter clinical testing The p.Gly602fs variant in USH2A has been identified by our laboratory in 1 individual with Usher syndrome who carried a second pathogenic variant in the USH2A gene. It was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at position 602 and leads to a premature termination codon 34 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the USH2A gene is an established disease mechanism in Usher syndrome. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive Usher syndrome. ACMG/AMP Criteria applied: PVS1; PM2, PM3.

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