ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs)

dbSNP: rs1569236971
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760974 SCV000890878 pathogenic Retinitis pigmentosa 3 2018-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV002464310 SCV002759662 pathogenic not provided 2019-04-08 criteria provided, single submitter clinical testing
3billion RCV000760974 SCV005904127 likely pathogenic Retinitis pigmentosa 3 2024-01-09 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000620583 /3billion dataset). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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