ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter)

gnomAD frequency: 0.00004  dbSNP: rs375859404
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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 RCV001871080 SCV002145368 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg371*) 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). This variant is present in population databases (rs375859404, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 28453600). ClinVar contains an entry for this variant (Variation ID: 1375717). For these reasons, this variant has been classified as Pathogenic.
Palindrome, Gene Kavoshgaran Aria RCV004774498 SCV005382616 pathogenic Cone-rod dystrophy 13 2024-09-24 criteria provided, single submitter clinical testing

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