ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)

gnomAD frequency: 0.00004  dbSNP: rs192003551
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724658 SCV000227492 pathogenic not provided 2015-03-02 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000175918 SCV000267482 pathogenic Cone-rod dystrophy 13 2016-03-18 criteria provided, single submitter reference population
Baylor Genetics RCV000175918 SCV001528084 pathogenic Cone-rod dystrophy 13 2018-08-30 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001261169 SCV002044681 pathogenic Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000175918 SCV002044692 pathogenic Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852161 SCV002211546 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-05-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 195355). This premature translational stop signal has been observed in individual(s) with inherited retinal disorders (PMID: 23105016, 28456785, 31736247). This variant is present in population databases (rs192003551, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg52*) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016).
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001261169 SCV001438565 pathogenic Leber congenital amaurosis 6 no assertion criteria provided research

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