ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) (rs746551311)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666545 SCV000790851 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000627213 SCV000748200 pathogenic not provided 2018-10-12 criteria provided, single submitter clinical testing The Q1408X variant has been published previously in association with retinitis pigmentosa (Seyedahmadi et al., 2004; Tajiguli et al., 2016). The variant is not observed in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we consider this variant to be pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504899 SCV000598810 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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