ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) (rs1553252388)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599475 SCV000709857 likely pathogenic not provided 2018-02-05 criteria provided, single submitter clinical testing The c.13335_13347del13insCTTG variant in the USH2A gene has been reported previously in association with nonsyndromic retinitis pigmentosa (McGee et al., 2010). The c.13335_13347del13insCTTG variant causes an in-frame deletion of five amino acids and the insertion of two incorrect amino acids, denoted p.Glu4445_Ser4449delinsAspLeu. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The c.13335_13347del13insCTTG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.13335_13347del13insCTTG as a likely pathogenic variant.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000504662 SCV000926721 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504662 SCV000598786 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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