ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8851C>G (p.Gln2951Glu) (rs201394390)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669591 SCV000794360 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000826079 SCV000967574 uncertain significance not specified 2019-02-05 criteria provided, single submitter clinical testing The p.Gln2951Glu variant in USH2A has been reported in 1 individual with retinit is pigmentosa who also had two additional variants of uncertain significance in USH2A (Carss 2017). This variant has been reported in ClinVar (Variation ID 4380 29), and it has also been identified in 0.01% (1/8708) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and c onservation analysis do not provide strong support for or against an impact to t he protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504737 SCV000598835 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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