ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs)

dbSNP: rs2067448565
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543446 SCV001762020 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
GeneDx RCV001543446 SCV002601564 pathogenic not provided 2022-05-13 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in a family with clinical features and inheritance suggestive of X-linked retinitis pigmentosa in published literature; reported as 1275_1276delCT (Bader et al., 2003); This variant is associated with the following publications: (PMID: 12657579)
PreventionGenetics, part of Exact Sciences RCV001543446 SCV002759621 pathogenic not provided 2017-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003538637 SCV004299799 pathogenic Primary ciliary dyskinesia 2023-03-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu406Ilefs*46) in the RPGR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGR are known to be pathogenic (PMID: 16055928, 16969763). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of RPGR-related conditions (PMID: 12657579, 34985506). This variant is also known as 1275_1276delCT (L406fsX451). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001251554 SCV001427262 pathogenic Retinitis pigmentosa 3 no assertion criteria provided clinical testing

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