ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)

dbSNP: rs778149316
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000168109 SCV000218765 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp571Glyfs*12) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). This variant is present in population databases (rs778149316, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 188192). For these reasons, this variant has been classified as Pathogenic.
UW Hindbrain Malformation Research Program, University of Washington RCV000201673 SCV000256470 pathogenic Joubert syndrome 7 2015-02-23 criteria provided, single submitter research
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001280714 SCV001468020 pathogenic not provided 2020-08-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001280714 SCV002019897 pathogenic not provided 2019-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498833 SCV002810080 pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271280 SCV001452353 pathogenic Familial aplasia of the vermis 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004732733 SCV005360088 pathogenic RPGRIP1L-related disorder 2024-05-15 no assertion criteria provided clinical testing The RPGRIP1L c.1709dupA variant is predicted to result in a frameshift and premature protein termination (p.Asp571Glyfs*12). This variant has been reported in the compound heterozygous state in a patient with Joubert syndrome (Table S5, Bachmann-Gagescu et al. 2015. PubMed ID: 26092869). Furthermore, loss of function variants in the RPGRIP1L gene are a known mechanism of disease (Delous et al. 2007. PubMed ID: 17558409). In summary, we classify this variant as pathogenic.

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