ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)

dbSNP: rs767686118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001975234 SCV002243275 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-05-22 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: 1459489). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. This variant is present in population databases (rs767686118, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg747*) 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469441 SCV002766382 likely pathogenic Joubert syndrome and related disorders 2022-11-25 criteria provided, single submitter clinical testing Variant summary: RPGRIP1L c.2239C>T (p.Arg747X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic in ClinVar. The variant allele was found at a frequency of 4e-06 in 251386 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2239C>T in individuals affected with Joubert Syndrome And Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002479591 SCV002799206 likely pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-02-07 criteria provided, single submitter clinical testing

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