ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.139dup (p.Ser47fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003030247 SCV003335850 pathogenic Primary ciliary dyskinesia 2023-03-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RPGR-related conditions. This sequence change creates a premature translational stop signal (p.Ser47Phefs*8) 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). ClinVar contains an entry for this variant (Variation ID: 2117984). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817177 SCV005069108 pathogenic Retinal dystrophy 2008-01-01 no assertion criteria provided clinical testing

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